Hübner CA - Search Results

1

Splicing factor YBX1 mediates persistence of JAK2-mutated neoplasms.

Jayavelu AK, Schnöder TM, Perner F, Herzog C, Meiler A, Krishnamoorthy G, Huber N, Mohr J, Edelmann-Stephan B, Austin R, Brandt S, Palandri F, Schröder N, Isermann B, Edlich F, Sinha AU, Ungelenk M, Hübner CA, Zeiser R, Rahmig S, Waskow C, Coldham I, Ernst T, Hochhaus A, Jilg S, Jost PJ, Mullally A, Bullinger L, Mertens PR, Lane SW, Mann M, Heidel FH. Jayavelu AK, et al. Among authors: hubner ca. Nature. 2020 Dec;588(7836):157-163. doi: 10.1038/s41586-020-2968-3. Epub 2020 Nov 25. Nature. 2020. PMID: 33239784

2

Regulation of endoplasmic reticulum turnover by selective autophagy.

Khaminets A, Heinrich T, Mari M, Grumati P, Huebner AK, Akutsu M, Liebmann L, Stolz A, Nietzsche S, Koch N, Mauthe M, Katona I, Qualmann B, Weis J, Reggiori F, Kurth I, Hübner CA, Dikic I. Khaminets A, et al. Among authors: hubner ca. Nature. 2015 Jun 18;522(7556):354-8. doi: 10.1038/nature14498. Epub 2015 Jun 3. Nature. 2015. PMID: 26040720

3

Disruption of KCC2 in Parvalbumin-Positive Interneurons Is Associated With a Decreased Seizure Threshold and a Progressive Loss of Parvalbumin-Positive Interneurons.

Herrmann T, Gerth M, Dittmann R, Pensold D, Ungelenk M, Liebmann L, Hübner CA. Herrmann T, et al. Among authors: hubner ca. Front Mol Neurosci. 2022 Feb 3;14:807090. doi: 10.3389/fnmol.2021.807090. eCollection 2021. Front Mol Neurosci. 2022. PMID: 35185464 Free PMC article.

4

Histone demethylase KDM4C is a functional dependency in JAK2-mutated neoplasms.

Ernst P, Schnöder TM, Huber N, Perner F, Jayavelu AK, Eifert T, Hsu CJ, Tubío-Santamaría N, Crodel CC, Ungelenk M, Hübner CA, Clement JH, Hochhaus A, Heidel FH. Ernst P, et al. Among authors: hubner ca. Leukemia. 2022 Jul;36(7):1843-1849. doi: 10.1038/s41375-022-01611-3. Epub 2022 Jun 2. Leukemia. 2022. PMID: 35654819 Free PMC article.

5

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nürnberg G, Nürnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hübner CA. Kurth I, et al. Among authors: hubner ca. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18. Nat Genet. 2009. PMID: 19838196

6

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hübner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafé L, Spranger J, Unger S, Zabel B, Superti-Furga A. Lausch E, et al. Among authors: hubner ca. Nat Genet. 2011 Feb;43(2):132-7. doi: 10.1038/ng.749. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217752

7

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

Chiabrando D, Castori M, di Rocco M, Ungelenk M, Gießelmann S, Di Capua M, Madeo A, Grammatico P, Bartsch S, Hübner CA, Altruda F, Silengo L, Tolosano E, Kurth I. Chiabrando D, et al. Among authors: hubner ca. PLoS Genet. 2016 Dec 6;12(12):e1006461. doi: 10.1371/journal.pgen.1006461. eCollection 2016 Dec. PLoS Genet. 2016. PMID: 27923065 Free PMC article.

8

Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism.

Göppner C, Orozco IJ, Hoegg-Beiler MB, Soria AH, Hübner CA, Fernandes-Rosa FL, Boulkroun S, Zennaro MC, Jentsch TJ. Göppner C, et al. Among authors: hubner ca. Nat Commun. 2019 Oct 15;10(1):4678. doi: 10.1038/s41467-019-12113-9. Nat Commun. 2019. PMID: 31615979 Free PMC article.

9

MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B.

Cinque L, De Leonibus C, Iavazzo M, Krahmer N, Intartaglia D, Salierno FG, De Cegli R, Di Malta C, Svelto M, Lanzara C, Maddaluno M, Wanderlingh LG, Huebner AK, Cesana M, Bonn F, Polishchuk E, Hübner CA, Conte I, Dikic I, Mann M, Ballabio A, Sacco F, Grumati P, Settembre C. Cinque L, et al. Among authors: hubner ca. EMBO J. 2020 Sep 1;39(17):e105696. doi: 10.15252/embj.2020105696. Epub 2020 Jul 27. EMBO J. 2020. PMID: 32716134 Free PMC article.

10

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Among authors: hubner ca. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.

11

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Among authors: hubner ca. Nat Genet. 2022 Mar;54(3):361. doi: 10.1038/s41588-022-01020-3. Nat Genet. 2022. PMID: 35102318 Free PMC article. No abstract available.

12

Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.

Foronda H, Fu Y, Covarrubias-Pinto A, Bocker HT, González A, Seemann E, Franzka P, Bock A, Bhaskara RM, Liebmann L, Hoffmann ME, Katona I, Koch N, Weis J, Kurth I, Gleeson JG, Reggiori F, Hummer G, Kessels MM, Qualmann B, Mari M, Dikić I, Hübner CA. Foronda H, et al. Among authors: hubner ca. Nature. 2023 Jun;618(7964):402-410. doi: 10.1038/s41586-023-06090-9. Epub 2023 May 24. Nature. 2023. PMID: 37225994 Free PMC article.

13

Ubiquitination regulates ER-phagy and remodelling of endoplasmic reticulum.

González A, Covarrubias-Pinto A, Bhaskara RM, Glogger M, Kuncha SK, Xavier A, Seemann E, Misra M, Hoffmann ME, Bräuning B, Balakrishnan A, Qualmann B, Dötsch V, Schulman BA, Kessels MM, Hübner CA, Heilemann M, Hummer G, Dikić I. González A, et al. Among authors: hubner ca. Nature. 2023 Jun;618(7964):394-401. doi: 10.1038/s41586-023-06089-2. Epub 2023 May 24. Nature. 2023. PMID: 37225996 Free PMC article.

14

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A. Janecke AR, et al. Among authors: hubner ca. Nat Genet. 2004 Aug;36(8):850-4. doi: 10.1038/ng1394. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258582

15

A de novo gain-of-function mutation in SCN11A causes loss of pain perception.

Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Stödberg T, Hennings JC, Bergmann M, Altmüller J, Thiele H, Wetzel A, Nürnberg P, Timmerman V, De Jonghe P, Blum R, Schaible HG, Weis J, Heinemann SH, Hübner CA, Kurth I. Leipold E, et al. Among authors: hubner ca. Nat Genet. 2013 Nov;45(11):1399-404. doi: 10.1038/ng.2767. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036948

16

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.

Leipold E, Hanson-Kahn A, Frick M, Gong P, Bernstein JA, Voigt M, Katona I, Oliver Goral R, Altmüller J, Nürnberg P, Weis J, Hübner CA, Heinemann SH, Kurth I. Leipold E, et al. Among authors: hubner ca. Nat Commun. 2015 Dec 8;6:10049. doi: 10.1038/ncomms10049. Nat Commun. 2015. PMID: 26645915 Free PMC article.

17

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A… See abstract for full author list ➔ van Rheenen W, et al. Among authors: hubner ca. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455348 Free PMC article.

18

Associations of common genetic risk variants of the muscarinic acetylcholine receptor M2 with cardiac autonomic dysfunction in patients with schizophrenia.

Refisch A, Komatsuzaki S, Ungelenk M, Chung HY, Schumann A, Schilling SS, Jantzen W, Schröder S, Mühleisen TW, Nöthen MM, Hübner CA, Bär KJ. Refisch A, et al. Among authors: hubner ca. World J Biol Psychiatry. 2023 Jan;24(1):1-11. doi: 10.1080/15622975.2022.2043561. Epub 2022 Mar 9. World J Biol Psychiatry. 2023. PMID: 35172679

19

The AE4 transporter mediates kidney acid-base sensing.

Vitzthum H, Koch M, Eckermann L, Svendsen SL, Berg P, Hübner CA, Wagner CA, Leipziger J, Meyer-Schwesinger C, Ehmke H. Vitzthum H, et al. Among authors: hubner ca. Nat Commun. 2023 May 26;14(1):3051. doi: 10.1038/s41467-023-38562-x. Nat Commun. 2023. PMID: 37236964 Free PMC article.

20

Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

Boettger T, Hübner CA, Maier H, Rust MB, Beck FX, Jentsch TJ. Boettger T, et al. Among authors: hubner ca. Nature. 2002 Apr 25;416(6883):874-8. doi: 10.1038/416874a. Nature. 2002. PMID: 11976689

21

Missense exchanges in the TTBK2 gene mutated in SCA11.

Edener U, Kurth I, Meiner A, Hoffmann F, Hübner CA, Bernard V, Gillessen-Kaesbach G, Zühlke C. Edener U, et al. Among authors: hubner ca. J Neurol. 2009 Nov;256(11):1856-9. doi: 10.1007/s00415-009-5209-0. Epub 2009 Jun 17. J Neurol. 2009. PMID: 19533200

22

Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.

Koch D, Spiwoks-Becker I, Sabanov V, Sinning A, Dugladze T, Stellmacher A, Ahuja R, Grimm J, Schüler S, Müller A, Angenstein F, Ahmed T, Diesler A, Moser M, Tom Dieck S, Spessert R, Boeckers TM, Fässler R, Hübner CA, Balschun D, Gloveli T, Kessels MM, Qualmann B. Koch D, et al. Among authors: hubner ca. EMBO J. 2011 Sep 16;30(24):4955-69. doi: 10.1038/emboj.2011.339. EMBO J. 2011. PMID: 21926968 Free PMC article.

23

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.

Falk J, Rohde M, Bekhite MM, Neugebauer S, Hemmerich P, Kiehntopf M, Deufel T, Hübner CA, Beetz C. Falk J, et al. Among authors: hubner ca. Hum Mutat. 2014 Apr;35(4):497-504. doi: 10.1002/humu.22521. Epub 2014 Mar 5. Hum Mutat. 2014. PMID: 24478229

24

GABAergic regulation of cerebellar NG2 cell development is altered in perinatal white matter injury.

Zonouzi M, Scafidi J, Li P, McEllin B, Edwards J, Dupree JL, Harvey L, Sun D, Hübner CA, Cull-Candy SG, Farrant M, Gallo V. Zonouzi M, et al. Among authors: hubner ca. Nat Neurosci. 2015 May;18(5):674-82. doi: 10.1038/nn.3990. Epub 2015 Mar 30. Nat Neurosci. 2015. PMID: 25821912 Free PMC article.

25

Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.

Hentschke M, Kurth I, Borgmeyer U, Hübner CA. Hentschke M, et al. Among authors: hubner ca. J Biol Chem. 2006 Nov 3;281(44):33497-504. doi: 10.1074/jbc.M606975200. Epub 2006 Sep 5. J Biol Chem. 2006. PMID: 16954206 Free article.

26

Synaptic glutamate release is modulated by the Na+ -driven Cl-/HCO₃⁻ exchanger Slc4a8.

Sinning A, Liebmann L, Kougioumtzes A, Westermann M, Bruehl C, Hübner CA. Sinning A, et al. Among authors: hubner ca. J Neurosci. 2011 May 18;31(20):7300-11. doi: 10.1523/JNEUROSCI.0269-11.2011. J Neurosci. 2011. PMID: 21593314 Free PMC article.

27

A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule.

Hennings JC, Picard N, Huebner AK, Stauber T, Maier H, Brown D, Jentsch TJ, Vargas-Poussou R, Eladari D, Hübner CA. Hennings JC, et al. Among authors: hubner ca. EMBO Mol Med. 2012 Oct;4(10):1057-71. doi: 10.1002/emmm.201201527. Epub 2012 Aug 30. EMBO Mol Med. 2012. PMID: 22933323 Free PMC article.

28

Anion transport and GABA signaling.

Hübner CA, Holthoff K. Hübner CA, et al. Front Cell Neurosci. 2013 Oct 24;7:177. doi: 10.3389/fncel.2013.00177. Front Cell Neurosci. 2013. PMID: 24187533 Free PMC article. Review.

29

The KCl-cotransporter KCC2 linked to epilepsy.

Hübner CA. Hübner CA. EMBO Rep. 2014 Jul;15(7):732-3. doi: 10.15252/embr.201439039. Epub 2014 Jun 13. EMBO Rep. 2014. PMID: 24928907 Free PMC article.

30

Membrane-shaping disorders: a common pathway in axon degeneration.

Hübner CA, Kurth I. Hübner CA, et al. Brain. 2014 Dec;137(Pt 12):3109-21. doi: 10.1093/brain/awu287. Epub 2014 Oct 3. Brain. 2014. PMID: 25281866 Review.

31

Thalamic afferents influence cortical progenitors via ephrin A5-EphA4 interactions.

Gerstmann K, Pensold D, Symmank J, Khundadze M, Hübner CA, Bolz J, Zimmer G. Gerstmann K, et al. Among authors: hubner ca. Development. 2015 Jan 1;142(1):140-50. doi: 10.1242/dev.104927. Epub 2014 Dec 5. Development. 2015. PMID: 25480914

32

NKCC1-Mediated GABAergic Signaling Promotes Postnatal Cell Death in Neocortical Cajal-Retzius Cells.

Blanquie O, Liebmann L, Hübner CA, Luhmann HJ, Sinning A. Blanquie O, et al. Among authors: hubner ca. Cereb Cortex. 2017 Feb 1;27(2):1644-1659. doi: 10.1093/cercor/bhw004. Cereb Cortex. 2017. PMID: 26819276

33

The DNA Methyltransferase 1 (DNMT1) Controls the Shape and Dynamics of Migrating POA-Derived Interneurons Fated for the Murine Cerebral Cortex.

Pensold D, Symmank J, Hahn A, Lingner T, Salinas-Riester G, Downie BR, Ludewig F, Rotzsch A, Haag N, Andreas N, Schubert K, Hübner CA, Pieler T, Zimmer G. Pensold D, et al. Among authors: hubner ca. Cereb Cortex. 2017 Dec 1;27(12):5696-5714. doi: 10.1093/cercor/bhw341. Cereb Cortex. 2017. PMID: 29117290

34

The Actin Nucleator Cobl Is Critical for Centriolar Positioning, Postnatal Planar Cell Polarity Refinement, and Function of the Cochlea.

Haag N, Schüler S, Nietzsche S, Hübner CA, Strenzke N, Qualmann B, Kessels MM. Haag N, et al. Among authors: hubner ca. Cell Rep. 2018 Aug 28;24(9):2418-2431.e6. doi: 10.1016/j.celrep.2018.07.087. Cell Rep. 2018. PMID: 30157434 Free article.

35

A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five.

Khundadze M, Ribaudo F, Hussain A, Rosentreter J, Nietzsche S, Thelen M, Winter D, Hoffmann B, Afzal MA, Hermann T, de Heus C, Piskor EM, Kosan C, Franzka P, von Kleist L, Stauber T, Klumperman J, Damme M, Proikas-Cezanne T, Hübner CA. Khundadze M, et al. Among authors: hubner ca. Neurobiol Dis. 2019 Jul;127:419-431. doi: 10.1016/j.nbd.2019.03.026. Epub 2019 Mar 28. Neurobiol Dis. 2019. PMID: 30930081

36

Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice.

Huebner AK, Maier H, Maul A, Nietzsche S, Herrmann T, Praetorius J, Hübner CA. Huebner AK, et al. Among authors: hubner ca. J Assoc Res Otolaryngol. 2019 Jun;20(3):233-245. doi: 10.1007/s10162-019-00719-1. Epub 2019 Apr 18. J Assoc Res Otolaryngol. 2019. PMID: 31001720 Free PMC article.

37

ER-phagy and human diseases.

Hübner CA, Dikic I. Hübner CA, et al. Cell Death Differ. 2020 Mar;27(3):833-842. doi: 10.1038/s41418-019-0444-0. Epub 2019 Oct 28. Cell Death Differ. 2020. PMID: 31659280 Free PMC article. Review.

38

DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical Interneurons.

Pensold D, Reichard J, Van Loo KMJ, Ciganok N, Hahn A, Bayer C, Liebmann L, Groß J, Tittelmeier J, Lingner T, Salinas-Riester G, Symmank J, Halfmann C, González-Bermúdez L, Urbach A, Gehrmann J, Costa I, Pieler T, Hübner CA, Vatter H, Kampa B, Becker AJ, Zimmer-Bensch G. Pensold D, et al. Among authors: hubner ca. Cereb Cortex. 2020 Jun 1;30(7):3921-3937. doi: 10.1093/cercor/bhaa009. Cereb Cortex. 2020. PMID: 32147726 Free PMC article.

39

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)¹.

Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R… See abstract for full author list ➔ Klionsky DJ, et al. Among authors: hubner ca. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8. Autophagy. 2021. PMID: 33634751 Free PMC article.

40

A limited role of NKCC1 in telencephalic glutamatergic neurons for developing hippocampal network dynamics and behavior.

Graf J, Zhang C, Marguet SL, Herrmann T, Flossmann T, Hinsch R, Rahmati V, Guenther M, Frahm C, Urbach A, Neves RM, Witte OW, Kiebel SJ, Isbrandt D, Hübner CA, Holthoff K, Kirmse K. Graf J, et al. Among authors: hubner ca. Proc Natl Acad Sci U S A. 2021 Apr 6;118(14):e2014784118. doi: 10.1073/pnas.2014784118. Proc Natl Acad Sci U S A. 2021. PMID: 33782119 Free PMC article.

41

Intracellular persistence of Staphylococcus aureus in endothelial cells is promoted by the absence of phenol-soluble modulins.

Siegmund A, Afzal MA, Tetzlaff F, Keinhörster D, Gratani F, Paprotka K, Westermann M, Nietzsche S, Wolz C, Fraunholz M, Hübner CA, Löffler B, Tuchscherr L. Siegmund A, et al. Among authors: hubner ca. Virulence. 2021 Dec;12(1):1186-1198. doi: 10.1080/21505594.2021.1910455. Virulence. 2021. PMID: 33843450 Free PMC article.

42

Ion channel diseases.

Hübner CA, Jentsch TJ. Hübner CA, et al. Hum Mol Genet. 2002 Oct 1;11(20):2435-45. doi: 10.1093/hmg/11.20.2435. Hum Mol Genet. 2002. PMID: 12351579 Review.

43

Expression of the KCl cotransporter KCC2 parallels neuronal maturation and the emergence of low intracellular chloride.

Stein V, Hermans-Borgmeyer I, Jentsch TJ, Hübner CA. Stein V, et al. Among authors: hubner ca. J Comp Neurol. 2004 Jan 1;468(1):57-64. doi: 10.1002/cne.10983. J Comp Neurol. 2004. PMID: 14648690

44

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.

Hübner CA, Utermann B, Tinschert S, Krüger G, Ressler B, Steglich C, Schinzel A, Gal A. Hübner CA, et al. Hum Mutat. 2004 May;23(5):526. doi: 10.1002/humu.9242. Hum Mutat. 2004. PMID: 15108295

45

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

Hübner CA, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A. Hübner CA, et al. Hum Mutat. 2005 Mar;25(3):321-2. doi: 10.1002/humu.9314. Hum Mutat. 2005. PMID: 15712223

46

Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation.

Harendza S, Hübner CA, Gläser C, Burdelski M, Thaiss F, Hansmann I, Gal A, Stahl RA. Harendza S, et al. Among authors: hubner ca. J Nephrol. 2005 May-Jun;18(3):312-7. J Nephrol. 2005. PMID: 16013021

47

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.

Hentschke M, Wiemann M, Hentschke S, Kurth I, Hermans-Borgmeyer I, Seidenbecher T, Jentsch TJ, Gal A, Hübner CA. Hentschke M, et al. Among authors: hubner ca. Mol Cell Biol. 2006 Jan;26(1):182-91. doi: 10.1128/MCB.26.1.182-191.2006. Mol Cell Biol. 2006. PMID: 16354689 Free PMC article.

48

Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3.

Rust MB, Faulhaber J, Budack MK, Pfeffer C, Maritzen T, Didié M, Beck FX, Boettger T, Schubert R, Ehmke H, Jentsch TJ, Hübner CA. Rust MB, et al. Among authors: hubner ca. Circ Res. 2006 Mar 3;98(4):549-56. doi: 10.1161/01.RES.0000204449.83861.22. Epub 2006 Jan 19. Circ Res. 2006. PMID: 16424367

49

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

Poët M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann JC, Planells-Cases R, Mole SE, Hübner CA, Jentsch TJ. Poët M, et al. Among authors: hubner ca. Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13854-9. doi: 10.1073/pnas.0606137103. Epub 2006 Sep 1. Proc Natl Acad Sci U S A. 2006. PMID: 16950870 Free PMC article.

50

Molecular and functional characterization of Kv4.2 and KChIP2 expressed in the porcine left ventricle.

Schultz JH, Volk T, Bassalaý P, Hennings JC, Hübner CA, Ehmke H. Schultz JH, et al. Among authors: hubner ca. Pflugers Arch. 2007 May;454(2):195-207. doi: 10.1007/s00424-006-0203-1. Epub 2007 Jan 23. Pflugers Arch. 2007. PMID: 17242957

51

Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice.

Rust MB, Alper SL, Rudhard Y, Shmukler BE, Vicente R, Brugnara C, Trudel M, Jentsch TJ, Hübner CA. Rust MB, et al. Among authors: hubner ca. J Clin Invest. 2007 Jun;117(6):1708-17. doi: 10.1172/JCI30630. Epub 2007 May 17. J Clin Invest. 2007. PMID: 17510708 Free PMC article.

52

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

Blanz J, Schweizer M, Auberson M, Maier H, Muenscher A, Hübner CA, Jentsch TJ. Blanz J, et al. Among authors: hubner ca. J Neurosci. 2007 Jun 13;27(24):6581-9. doi: 10.1523/JNEUROSCI.0338-07.2007. J Neurosci. 2007. PMID: 17567819 Free PMC article.

53

Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability.

Jacobs S, Ruusuvuori E, Sipilä ST, Haapanen A, Damkier HH, Kurth I, Hentschke M, Schweizer M, Rudhard Y, Laatikainen LM, Tyynelä J, Praetorius J, Voipio J, Hübner CA. Jacobs S, et al. Among authors: hubner ca. Proc Natl Acad Sci U S A. 2008 Jan 8;105(1):311-6. doi: 10.1073/pnas.0705487105. Epub 2007 Dec 28. Proc Natl Acad Sci U S A. 2008. PMID: 18165320 Free PMC article.

54

Channelopathies of transepithelial transport and vesicular function.

Hübner CA, Jentsch TJ. Hübner CA, et al. Adv Genet. 2008;63:113-152. doi: 10.1016/S0065-2660(08)01005-5. Adv Genet. 2008. PMID: 19185187 Review.

55

The murine AE4 promoter predominantly drives type B intercalated cell specific transcription.

Hentschke M, Hentschke S, Borgmeyer U, Hübner CA, Kurth I. Hentschke M, et al. Among authors: hubner ca. Histochem Cell Biol. 2009 Oct;132(4):405-12. doi: 10.1007/s00418-009-0614-0. Epub 2009 Jun 21. Histochem Cell Biol. 2009. PMID: 19544066

56

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. Huebner AK, et al. Among authors: hubner ca. Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549336 Free PMC article.

57

Enhanced Synaptic Activity and Epileptiform Events in the Embryonic KCC2 Deficient Hippocampus.

Khalilov I, Chazal G, Chudotvorova I, Pellegrino C, Corby S, Ferrand N, Gubkina O, Nardou R, Tyzio R, Yamamoto S, Jentsch TJ, Hübner CA, Gaiarsa JL, Ben-Ari Y, Medina I. Khalilov I, et al. Among authors: hubner ca. Front Cell Neurosci. 2011 Nov 1;5:23. doi: 10.3389/fncel.2011.00023. eCollection 2011. Front Cell Neurosci. 2011. PMID: 22065950 Free PMC article.

58

Raising cytosolic Cl- in cerebellar granule cells affects their excitability and vestibulo-ocular learning.

Seja P, Schonewille M, Spitzmaul G, Badura A, Klein I, Rudhard Y, Wisden W, Hübner CA, De Zeeuw CI, Jentsch TJ. Seja P, et al. Among authors: hubner ca. EMBO J. 2012 Mar 7;31(5):1217-30. doi: 10.1038/emboj.2011.488. Epub 2012 Jan 17. EMBO J. 2012. PMID: 22252133 Free PMC article.

59

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA. Koehler K, et al. Among authors: hubner ca. Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12. Am J Hum Genet. 2013. PMID: 24035193 Free PMC article.

60

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.

Khundadze M, Kollmann K, Koch N, Biskup C, Nietzsche S, Zimmer G, Hennings JC, Huebner AK, Symmank J, Jahic A, Ilina EI, Karle K, Schöls L, Kessels M, Braulke T, Qualmann B, Kurth I, Beetz C, Hübner CA. Khundadze M, et al. Among authors: hubner ca. PLoS Genet. 2013;9(12):e1003988. doi: 10.1371/journal.pgen.1003988. Epub 2013 Dec 19. PLoS Genet. 2013. PMID: 24367272 Free PMC article.

61

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hübner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I. Kornak U, et al. Among authors: hubner ca. Brain. 2014 Mar;137(Pt 3):683-92. doi: 10.1093/brain/awt357. Epub 2014 Jan 22. Brain. 2014. PMID: 24459106

62

The murine Cl⁻/HCO⁻₃ exchanger Ae3 (Slc4a3) is not required for acid-base balance but is involved in magnesium handling by the kidney.

Kampik NB, Gehring N, Schnitzbauer U, Hennings JC, Hübner CA, Wagner CA. Kampik NB, et al. Among authors: hubner ca. Cell Physiol Biochem. 2014;34(5):1566-77. doi: 10.1159/000366360. Epub 2014 Oct 31. Cell Physiol Biochem. 2014. PMID: 25402438 Free article.

63

Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clones.

Elert-Dobkowska E, Hennings JC, Hübner CA, Beetz C. Elert-Dobkowska E, et al. Among authors: hubner ca. Anal Biochem. 2015 Apr 1;474:35-7. doi: 10.1016/j.ab.2015.01.007. Epub 2015 Jan 20. Anal Biochem. 2015. PMID: 25615417

64

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.

Varga RE, Khundadze M, Damme M, Nietzsche S, Hoffmann B, Stauber T, Koch N, Hennings JC, Franzka P, Huebner AK, Kessels MM, Biskup C, Jentsch TJ, Qualmann B, Braulke T, Kurth I, Beetz C, Hübner CA. Varga RE, et al. Among authors: hubner ca. PLoS Genet. 2015 Aug 18;11(8):e1005454. doi: 10.1371/journal.pgen.1005454. eCollection 2015 Aug. PLoS Genet. 2015. PMID: 26284655 Free PMC article.

65

The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.

Hennings JC, Andrini O, Picard N, Paulais M, Huebner AK, Cayuqueo IK, Bignon Y, Keck M, Cornière N, Böhm D, Jentsch TJ, Chambrey R, Teulon J, Hübner CA, Eladari D. Hennings JC, et al. Among authors: hubner ca. J Am Soc Nephrol. 2017 Jan;28(1):209-217. doi: 10.1681/ASN.2016010085. Epub 2016 Jun 22. J Am Soc Nephrol. 2017. PMID: 27335120 Free PMC article.

66

Intercalated Cell Depletion and Vacuolar H⁺-ATPase Mistargeting in an Ae1 R607H Knockin Model.

Mumtaz R, Trepiccione F, Hennings JC, Huebner AK, Serbin B, Picard N, Ullah AKMS, Păunescu TG, Capen DE, Lashhab RM, Mouro-Chanteloup I, Alper SL, Wagner CA, Cordat E, Brown D, Eladari D, Hübner CA. Mumtaz R, et al. Among authors: hubner ca. J Am Soc Nephrol. 2017 May;28(5):1507-1520. doi: 10.1681/ASN.2016020169. Epub 2016 Dec 8. J Am Soc Nephrol. 2017. PMID: 27932475 Free PMC article.

67

Ca²⁺-activated Cl^- currents in the murine vomeronasal organ enhance neuronal spiking but are dispensable for male-male aggression.

Münch J, Billig G, Hübner CA, Leinders-Zufall T, Zufall F, Jentsch TJ. Münch J, et al. Among authors: hubner ca. J Biol Chem. 2018 Jun 29;293(26):10392-10403. doi: 10.1074/jbc.RA118.003153. Epub 2018 May 16. J Biol Chem. 2018. PMID: 29769308 Free PMC article.

68

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.

Schijven D, Stevelink R, McCormack M, van Rheenen W, Luykx JJ, Koeleman BPC, Veldink JH; Project MinE ALS GWAS Consortium; International League Against Epilepsy Consortium on Complex Epilepsies. Schijven D, et al. Neurobiol Aging. 2020 Aug;92:153.e1-153.e5. doi: 10.1016/j.neurobiolaging.2020.04.011. Epub 2020 Apr 18. Neurobiol Aging. 2020. PMID: 32409253 Free PMC article.

69

Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice.

Ebbinghaus M, Tuchscherr L, Segond von Banchet G, Liebmann L, Adams V, Gajda M, Hübner CA, Kurth I, Schaible HG. Ebbinghaus M, et al. Among authors: hubner ca. PLoS One. 2020 Aug 20;15(8):e0237101. doi: 10.1371/journal.pone.0237101. eCollection 2020. PLoS One. 2020. PMID: 32817686 Free PMC article.

70

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.

Franzka P, Henze H, Jung MJ, Schüler SC, Mittag S, Biskup K, Liebmann L, Kentache T, Morales J, Martínez B, Katona I, Herrmann T, Huebner AK, Hennings JC, Groth S, Gresing L, Horstkorte R, Marquardt T, Weis J, Kaether C, Mutchinick OM, Ori A, Huber O, Blanchard V, von Maltzahn J, Hübner CA. Franzka P, et al. Among authors: hubner ca. J Clin Invest. 2021 May 3;131(9):e139076. doi: 10.1172/JCI139076. J Clin Invest. 2021. PMID: 33755596 Free PMC article.

71

The Cl^--channel TMEM16A is involved in the generation of cochlear Ca²⁺ waves and promotes the refinement of auditory brainstem networks in mice.

Maul A, Huebner AK, Strenzke N, Moser T, Rübsamen R, Jovanovic S, Hübner CA. Maul A, et al. Among authors: hubner ca. Elife. 2022 Feb 7;11:e72251. doi: 10.7554/eLife.72251. Elife. 2022. PMID: 35129434 Free PMC article.

72

Genetic pain loss disorders.

Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Among authors: hubner ca. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.

73

Ion channels: function unravelled by dysfunction.

Jentsch TJ, Hübner CA, Fuhrmann JC. Jentsch TJ, et al. Among authors: hubner ca. Nat Cell Biol. 2004 Nov;6(11):1039-47. doi: 10.1038/ncb1104-1039. Nat Cell Biol. 2004. PMID: 15516997 Review.

74

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A. Thompson DA, et al. Among authors: hubner ca. Hum Mol Genet. 2005 Dec 15;14(24):3865-75. doi: 10.1093/hmg/ddi411. Epub 2005 Nov 3. Hum Mol Genet. 2005. PMID: 16269441

75

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M. Schulz AL, et al. Among authors: hubner ca. Clin Genet. 2008 Jan;73(1):62-70. doi: 10.1111/j.1399-0004.2007.00931.x. Epub 2007 Nov 27. Clin Genet. 2008. PMID: 18042262

76

Rdh12 activity and effects on retinoid processing in the murine retina.

Chrispell JD, Feathers KL, Kane MA, Kim CY, Brooks M, Khanna R, Kurth I, Hübner CA, Gal A, Mears AJ, Swaroop A, Napoli JL, Sparrow JR, Thompson DA. Chrispell JD, et al. Among authors: hubner ca. J Biol Chem. 2009 Aug 7;284(32):21468-77. doi: 10.1074/jbc.M109.020966. Epub 2009 Jun 8. J Biol Chem. 2009. PMID: 19506076 Free PMC article.

77

Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina.

Hilgen G, Huebner AK, Tanimoto N, Sothilingam V, Seide C, Garcia Garrido M, Schmidt KF, Seeliger MW, Löwel S, Weiler R, Hübner CA, Dedek K. Hilgen G, et al. Among authors: hubner ca. PLoS One. 2012;7(10):e46155. doi: 10.1371/journal.pone.0046155. Epub 2012 Oct 9. PLoS One. 2012. PMID: 23056253 Free PMC article.

78

Neuronal carbonic anhydrase VII provides GABAergic excitatory drive to exacerbate febrile seizures.

Ruusuvuori E, Huebner AK, Kirilkin I, Yukin AY, Blaesse P, Helmy M, Kang HJ, El Muayed M, Hennings JC, Voipio J, Šestan N, Hübner CA, Kaila K. Ruusuvuori E, et al. Among authors: hubner ca. EMBO J. 2013 Aug 14;32(16):2275-86. doi: 10.1038/emboj.2013.160. Epub 2013 Jul 23. EMBO J. 2013. PMID: 23881097 Free PMC article.

79

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

Beetz C, Koch N, Khundadze M, Zimmer G, Nietzsche S, Hertel N, Huebner AK, Mumtaz R, Schweizer M, Dirren E, Karle KN, Irintchev A, Alvarez V, Redies C, Westermann M, Kurth I, Deufel T, Kessels MM, Qualmann B, Hübner CA. Beetz C, et al. Among authors: hubner ca. J Clin Invest. 2013 Oct;123(10):4273-82. doi: 10.1172/JCI65665. Epub 2013 Sep 24. J Clin Invest. 2013. PMID: 24051375 Free PMC article.

80

Disruption of vascular Ca2+-activated chloride currents lowers blood pressure.

Heinze C, Seniuk A, Sokolov MV, Huebner AK, Klementowicz AE, Szijártó IA, Schleifenbaum J, Vitzthum H, Gollasch M, Ehmke H, Schroeder BC, Hübner CA. Heinze C, et al. Among authors: hubner ca. J Clin Invest. 2014 Feb;124(2):675-86. doi: 10.1172/JCI70025. Epub 2014 Jan 9. J Clin Invest. 2014. PMID: 24401273 Free PMC article.

81

Inhibition of carbonic anhydrase augments GABAA receptor-mediated analgesia via a spinal mechanism of action.

Asiedu MN, Mejia GL, Hübner CA, Kaila K, Price TJ. Asiedu MN, et al. Among authors: hubner ca. J Pain. 2014 Apr;15(4):395-406. doi: 10.1016/j.jpain.2014.01.001. Epub 2014 Jan 9. J Pain. 2014. PMID: 24412803 Free PMC article.

82

ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.

Schneider K, Seemann E, Liebmann L, Ahuja R, Koch D, Westermann M, Hübner CA, Kessels MM, Qualmann B. Schneider K, et al. Among authors: hubner ca. J Cell Biol. 2014 Apr 28;205(2):197-215. doi: 10.1083/jcb.201307088. Epub 2014 Apr 21. J Cell Biol. 2014. PMID: 24751538 Free PMC article.

83

Regulation of vascular tone and arterial blood pressure: role of chloride transport in vascular smooth muscle.

Hübner CA, Schroeder BC, Ehmke H. Hübner CA, et al. Pflugers Arch. 2015 Mar;467(3):605-14. doi: 10.1007/s00424-014-1684-y. Epub 2015 Jan 16. Pflugers Arch. 2015. PMID: 25588975 Review.

84

Disruption of Slc4a10 augments neuronal excitability and modulates synaptic short-term plasticity.

Sinning A, Liebmann L, Hübner CA. Sinning A, et al. Among authors: hubner ca. Front Cell Neurosci. 2015 Jun 16;9:223. doi: 10.3389/fncel.2015.00223. eCollection 2015. Front Cell Neurosci. 2015. PMID: 26136660 Free PMC article.

85

Double Knockout of the Na+-Driven Cl-/HCO3- Exchanger and Na+/Cl- Cotransporter Induces Hypokalemia and Volume Depletion.

Sinning A, Radionov N, Trepiccione F, López-Cayuqueo KI, Jayat M, Baron S, Cornière N, Alexander RT, Hadchouel J, Eladari D, Hübner CA, Chambrey R. Sinning A, et al. Among authors: hubner ca. J Am Soc Nephrol. 2017 Jan;28(1):130-139. doi: 10.1681/ASN.2015070734. Epub 2016 May 5. J Am Soc Nephrol. 2017. PMID: 27151921 Free PMC article.

86

Reduced tonic inhibition after stroke promotes motor performance and epileptic seizures.

Jaenisch N, Liebmann L, Guenther M, Hübner CA, Frahm C, Witte OW. Jaenisch N, et al. Among authors: hubner ca. Sci Rep. 2016 May 18;6:26173. doi: 10.1038/srep26173. Sci Rep. 2016. PMID: 27188341 Free PMC article.

87

Role of Cl^- -HCO₃^- exchanger AE3 in intracellular pH homeostasis in cultured murine hippocampal neurons, and in crosstalk to adjacent astrocytes.

Salameh AI, Hübner CA, Boron WF. Salameh AI, et al. Among authors: hubner ca. J Physiol. 2017 Jan 1;595(1):93-124. doi: 10.1113/JP272470. Epub 2016 Nov 6. J Physiol. 2017. PMID: 27353306 Free PMC article.

88

Mutations in CRLF1 cause familial achalasia.

Busch A, Žarković M, Lowe C, Jankofsky M, Ganschow R, Buers I, Kurth I, Reutter H, Rutsch F, Hübner CA. Busch A, et al. Among authors: hubner ca. Clin Genet. 2017 Jul;92(1):104-108. doi: 10.1111/cge.12953. Epub 2017 Mar 15. Clin Genet. 2017. PMID: 27976805

89

The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels.

Valkova C, Liebmann L, Krämer A, Hübner CA, Kaether C. Valkova C, et al. Among authors: hubner ca. Sci Rep. 2017 Jan 24;7:41248. doi: 10.1038/srep41248. Sci Rep. 2017. PMID: 28117367 Free PMC article.

90

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.

Bock AS, Günther S, Mohr J, Goldberg LV, Jahic A, Klisch C, Hübner CA, Biskup S, Beetz C. Bock AS, et al. Among authors: hubner ca. Hum Mutat. 2018 Feb;39(2):193-196. doi: 10.1002/humu.23369. Epub 2017 Nov 27. Hum Mutat. 2018. PMID: 29124833

91

Homeostatic plasticity and synaptic scaling in the adult mouse auditory cortex.

Teichert M, Liebmann L, Hübner CA, Bolz J. Teichert M, et al. Among authors: hubner ca. Sci Rep. 2017 Dec 12;7(1):17423. doi: 10.1038/s41598-017-17711-5. Sci Rep. 2017. PMID: 29234064 Free PMC article.

92

The Na+/H+ Exchanger Nhe1 Modulates Network Excitability via GABA Release.

Bocker HT, Heinrich T, Liebmann L, Hennings JC, Seemann E, Gerth M, Jakovčevski I, Preobraschenski J, Kessels MM, Westermann M, Isbrandt D, Jahn R, Qualmann B, Hübner CA. Bocker HT, et al. Among authors: hubner ca. Cereb Cortex. 2019 Sep 13;29(10):4263-4276. doi: 10.1093/cercor/bhy308. Cereb Cortex. 2019. PMID: 30541023

93

Visual deprivation independent shift of ocular dominance induced by cross-modal plasticity.

Teichert M, Isstas M, Liebmann L, Hübner CA, Wieske F, Winter C, Lehmann K, Bolz J. Teichert M, et al. Among authors: hubner ca. PLoS One. 2019 Mar 11;14(3):e0213616. doi: 10.1371/journal.pone.0213616. eCollection 2019. PLoS One. 2019. PMID: 30856226 Free PMC article.

94

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB. Husain RA, et al. Among authors: hubner ca. Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707086 Free PMC article.

95

Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER-phagy, and Collagen quality control.

Reggio A, Buonomo V, Berkane R, Bhaskara RM, Tellechea M, Peluso I, Polishchuk E, Di Lorenzo G, Cirillo C, Esposito M, Hussain A, Huebner AK, Hübner CA, Settembre C, Hummer G, Grumati P, Stolz A. Reggio A, et al. Among authors: hubner ca. EMBO Rep. 2021 Sep 6;22(9):e52289. doi: 10.15252/embr.202052289. Epub 2021 Aug 2. EMBO Rep. 2021. PMID: 34338405 Free PMC article.

96

SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.

Marrone L, Marchi PM, Webster CP, Marroccella R, Coldicott I, Reynolds S, Alves-Cruzeiro J, Yang ZL, Higginbottom A, Khundadze M, Shaw PJ, Hübner CA, Livesey MR, Azzouz M. Marrone L, et al. Among authors: hubner ca. Hum Mol Genet. 2022 Aug 23;31(16):2693-2710. doi: 10.1093/hmg/ddac063. Hum Mol Genet. 2022. PMID: 35313342 Free PMC article.

97

Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption.

Bösl MR, Stein V, Hübner C, Zdebik AA, Jordt SE, Mukhopadhyay AK, Davidoff MS, Holstein AF, Jentsch TJ. Bösl MR, et al. EMBO J. 2001 Mar 15;20(6):1289-99. doi: 10.1093/emboj/20.6.1289. EMBO J. 2001. PMID: 11250895 Free PMC article.

98

Disruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition.

Hübner CA, Stein V, Hermans-Borgmeyer I, Meyer T, Ballanyi K, Jentsch TJ. Hübner CA, et al. Neuron. 2001 May;30(2):515-24. doi: 10.1016/s0896-6273(01)00297-5. Neuron. 2001. PMID: 11395011 Free article.

99

Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.

Boettger T, Rust MB, Maier H, Seidenbecher T, Schweizer M, Keating DJ, Faulhaber J, Ehmke H, Pfeffer C, Scheel O, Lemcke B, Horst J, Leuwer R, Pape HC, Völkl H, Hübner CA, Jentsch TJ. Boettger T, et al. Among authors: hubner ca. EMBO J. 2003 Oct 15;22(20):5422-34. doi: 10.1093/emboj/cdg519. EMBO J. 2003. PMID: 14532115 Free PMC article.

100

Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte.

Huber SM, Duranton C, Henke G, Van De Sand C, Heussler V, Shumilina E, Sandu CD, Tanneur V, Brand V, Kasinathan RS, Lang KS, Kremsner PG, Hübner CA, Rust MB, Dedek K, Jentsch TJ, Lang F. Huber SM, et al. Among authors: hubner ca. J Biol Chem. 2004 Oct 1;279(40):41444-52. doi: 10.1074/jbc.M407618200. Epub 2004 Jul 21. J Biol Chem. 2004. PMID: 15272009 Free article.

101

Expression of the sodium-driven chloride bicarbonate exchanger NCBE during prenatal mouse development.

Hübner CA, Hentschke M, Jacobs S, Hermans-Borgmeyer I. Hübner CA, et al. Gene Expr Patterns. 2004 Dec;5(2):219-23. doi: 10.1016/j.modgep.2004.08.002. Gene Expr Patterns. 2004. PMID: 15567717

102

The forkhead transcription factor Foxi1 directly activates the AE4 promoter.

Kurth I, Hentschke M, Hentschke S, Borgmeyer U, Gal A, Hübner CA. Kurth I, et al. Among authors: hubner ca. Biochem J. 2006 Jan 1;393(Pt 1):277-83. doi: 10.1042/BJ20051094. Biochem J. 2006. PMID: 16159312 Free PMC article.

103

Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.

Warshawsky I, Chernova OB, Hübner CA, Stindl R, Henneke M, Gal A, Natowicz MR. Warshawsky I, et al. Among authors: hubner ca. Clin Chem. 2006 Jul;52(7):1267-75. doi: 10.1373/clinchem.2006.067967. Epub 2006 Apr 27. Clin Chem. 2006. PMID: 16644873

104

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.

Kurth I, Thompson DA, Rüther K, Feathers KL, Chrispell JD, Schroth J, McHenry CL, Schweizer M, Skosyrski S, Gal A, Hübner CA. Kurth I, et al. Among authors: hubner ca. Mol Cell Biol. 2007 Feb;27(4):1370-9. doi: 10.1128/MCB.01486-06. Epub 2006 Nov 27. Mol Cell Biol. 2007. PMID: 17130236 Free PMC article.

105

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Schüle R, Brandt E, Karle KN, Tsaousidou M, Klebe S, Klimpe S, Auer-Grumbach M, Crosby AH, Hübner CA, Schöls L, Deufel T, Beetz C. Schüle R, et al. Among authors: hubner ca. Neurogenetics. 2009 Apr;10(2):97-104. doi: 10.1007/s10048-008-0158-9. Epub 2008 Oct 15. Neurogenetics. 2009. PMID: 18855023

106

Carbonic anhydrases CA4 and CA14 both enhance AE3-mediated Cl--HCO3- exchange in hippocampal neurons.

Svichar N, Waheed A, Sly WS, Hennings JC, Hübner CA, Chesler M. Svichar N, et al. Among authors: hubner ca. J Neurosci. 2009 Mar 11;29(10):3252-8. doi: 10.1523/JNEUROSCI.0036-09.2009. J Neurosci. 2009. PMID: 19279262 Free PMC article.

107

NKCC1-dependent GABAergic excitation drives synaptic network maturation during early hippocampal development.

Pfeffer CK, Stein V, Keating DJ, Maier H, Rinke I, Rudhard Y, Hentschke M, Rune GM, Jentsch TJ, Hübner CA. Pfeffer CK, et al. Among authors: hubner ca. J Neurosci. 2009 Mar 18;29(11):3419-30. doi: 10.1523/JNEUROSCI.1377-08.2009. J Neurosci. 2009. PMID: 19295148 Free PMC article.

108

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.

Varga RE, Mumtaz R, Jahic A, Rudenskaya GE, Sánchez-Ferrero E, Auer-Grumbach M, Hübner CA, Beetz C. Varga RE, et al. Among authors: hubner ca. Anal Biochem. 2012 Feb 15;421(2):799-801. doi: 10.1016/j.ab.2011.12.002. Epub 2011 Dec 9. Anal Biochem. 2012. PMID: 22222296

109

N-ethylmaleimide activates a Cl(-)-independent component of K(+) flux in mouse erythrocytes.

Shmukler BE, Hsu A, Alves J, Trudel M, Rust MB, Hubner CA, Rivera A, Alper SL. Shmukler BE, et al. Among authors: hubner ca. Blood Cells Mol Dis. 2013 Jun;51(1):9-16. doi: 10.1016/j.bcmd.2013.02.004. Epub 2013 Mar 6. Blood Cells Mol Dis. 2013. PMID: 23481459 Free PMC article.

110

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

Jahic A, Khundadze M, Jaenisch N, Schüle R, Klimpe S, Klebe S, Frahm C, Kassubek J, Stevanin G, Schöls L, Brice A, Hübner CA, Beetz C. Jahic A, et al. Among authors: hubner ca. Orphanet J Rare Dis. 2015 Nov 16;10:147. doi: 10.1186/s13023-015-0359-x. Orphanet J Rare Dis. 2015. PMID: 26572744 Free PMC article.

111

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

Günther S, Elert-Dobkowska E, Soehn AS, Hinreiner S, Yoon G, Heller R, Hellenbroich Y, Hübner CA, Ray PN, Hehr U, Bauer P, Sulek A, Beetz C. Günther S, et al. Among authors: hubner ca. Hum Mutat. 2016 Jul;37(7):703-9. doi: 10.1002/humu.23000. Epub 2016 Apr 28. Hum Mutat. 2016. PMID: 27071356

112

GABAergic Transmission during Brain Development: Multiple Effects at Multiple Stages.

Kirmse K, Hübner CA, Isbrandt D, Witte OW, Holthoff K. Kirmse K, et al. Among authors: hubner ca. Neuroscientist. 2018 Feb;24(1):36-53. doi: 10.1177/1073858417701382. Epub 2017 Apr 5. Neuroscientist. 2018. PMID: 28378628 Review.

113

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Gold WA, Sobreira N, Wiame E, Marbaix A, Van Schaftingen E, Franzka P, Riley LG, Worgan L, Hübner CA, Christodoulou J, Adès LC. Gold WA, et al. Among authors: hubner ca. Am J Med Genet A. 2017 Aug;173(8):2246-2250. doi: 10.1002/ajmg.a.38292. Epub 2017 Jun 2. Am J Med Genet A. 2017. PMID: 28574218

114

Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease.

Shmukler BE, Rivera A, Bhargava P, Nishimura K, Hsu A, Kim EH, Trudel M, Rust MB, Hubner CA, Brugnara C, Alper SL. Shmukler BE, et al. Among authors: hubner ca. Blood Cells Mol Dis. 2019 Nov;79:102346. doi: 10.1016/j.bcmd.2019.102346. Epub 2019 Jul 17. Blood Cells Mol Dis. 2019. PMID: 31352162 Free PMC article.

115

Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia.

Shmukler BE, Rivera A, Bhargava P, Nishimura K, Kim EH, Hsu A, Wohlgemuth JG, Morton J, Snyder LM, De Franceschi L, Rust MB, Hubner CA, Brugnara C, Alper SL. Shmukler BE, et al. Among authors: hubner ca. Blood Cells Mol Dis. 2020 Mar;81:102389. doi: 10.1016/j.bcmd.2019.102389. Epub 2019 Nov 25. Blood Cells Mol Dis. 2020. PMID: 31835175 Free PMC article.

116

Corrigendum to "Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease" [Blood Cells Mol. Dis. (2019) start page-end page not yet assigned] https://doi.org/10.1016/j.bcmd.2019.102346.

Shmukler BE, Rivera A, Bhargava P, Nishimura K, Hsu A, Kim EH, Trudel M, Rust MB, Hubner CA, Brugnara C, Alper SL. Shmukler BE, et al. Among authors: hubner ca. Blood Cells Mol Dis. 2020 Mar;81:102390. doi: 10.1016/j.bcmd.2019.102390. Epub 2020 Jan 10. Blood Cells Mol Dis. 2020. PMID: 31931456 No abstract available.

117

A common variation in HCN1 is associated with heart rate variability in schizophrenia.

Refisch A, Chung HY, Komatsuzaki S, Schumann A, Mühleisen TW, Nöthen MM, Hübner CA, Bär KJ. Refisch A, et al. Among authors: hubner ca. Schizophr Res. 2021 Mar;229:73-79. doi: 10.1016/j.schres.2020.11.017. Epub 2020 Nov 18. Schizophr Res. 2021. PMID: 33221148

118

NKCC1, an Elusive Molecular Target in Brain Development: Making Sense of the Existing Data.

Virtanen MA, Uvarov P, Hübner CA, Kaila K. Virtanen MA, et al. Among authors: hubner ca. Cells. 2020 Dec 4;9(12):2607. doi: 10.3390/cells9122607. Cells. 2020. PMID: 33291778 Free PMC article. Review.

119

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation.

Khundadze M, Ribaudo F, Hussain A, Stahlberg H, Brocke-Ahmadinejad N, Franzka P, Varga RE, Zarkovic M, Pungsrinont T, Kokal M, Ganley IG, Beetz C, Sylvester M, Hübner CA. Khundadze M, et al. Among authors: hubner ca. Autophagy. 2021 Nov;17(11):3690-3706. doi: 10.1080/15548627.2021.1891848. Epub 2021 Mar 9. Autophagy. 2021. PMID: 33618608 Free PMC article.

120

Altered Glycosylation in the Aging Heart.

Franzka P, Krüger L, Schurig MK, Olecka M, Hoffmann S, Blanchard V, Hübner CA. Franzka P, et al. Among authors: hubner ca. Front Mol Biosci. 2021 May 28;8:673044. doi: 10.3389/fmolb.2021.673044. eCollection 2021. Front Mol Biosci. 2021. PMID: 34124155 Free PMC article.

121

Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.

Hübner CA, Senning A, Orth U, Zerres K, Urbach H, Gal A, Rudnik-Schöneborn S. Hübner CA, et al. Neuroscience. 2005;132(3):697-701. doi: 10.1016/j.neuroscience.2005.01.042. Neuroscience. 2005. PMID: 15837131

122

Renal intercalated cells are rather energized by a proton than a sodium pump.

Chambrey R, Kurth I, Peti-Peterdi J, Houillier P, Purkerson JM, Leviel F, Hentschke M, Zdebik AA, Schwartz GJ, Hübner CA, Eladari D. Chambrey R, et al. Among authors: hubner ca. Proc Natl Acad Sci U S A. 2013 May 7;110(19):7928-33. doi: 10.1073/pnas.1221496110. Epub 2013 Apr 22. Proc Natl Acad Sci U S A. 2013. PMID: 23610411 Free PMC article.

123

Minireview: pH and synaptic transmission.

Sinning A, Hübner CA. Sinning A, et al. Among authors: hubner ca. FEBS Lett. 2013 Jun 27;587(13):1923-8. doi: 10.1016/j.febslet.2013.04.045. Epub 2013 May 10. FEBS Lett. 2013. PMID: 23669358 Free article. Review.

124

Mutual functional dependence of cyclase-associated protein 1 (CAP1) and cofilin1 in neuronal actin dynamics and growth cone function.

Schneider F, Duong TA, Metz I, Winkelmeier J, Hübner CA, Endesfelder U, Rust MB. Schneider F, et al. Among authors: hubner ca. Prog Neurobiol. 2021 Jul;202:102050. doi: 10.1016/j.pneurobio.2021.102050. Epub 2021 Apr 18. Prog Neurobiol. 2021. PMID: 33845164 Free article.

125

The NKCC1 ion transporter modulates microglial phenotype and inflammatory response to brain injury in a cell-autonomous manner.

Tóth K, Lénárt N, Berki P, Fekete R, Szabadits E, Pósfai B, Cserép C, Alatshan A, Benkő S, Kiss D, Hübner CA, Gulyás A, Kaila K, Környei Z, Dénes Á. Tóth K, et al. Among authors: hubner ca. PLoS Biol. 2022 Jan 27;20(1):e3001526. doi: 10.1371/journal.pbio.3001526. eCollection 2022 Jan. PLoS Biol. 2022. PMID: 35085235 Free PMC article.

126

Expression of the Na-K-2Cl-cotransporter NKCC1 during mouse development.

Hübner CA, Lorke DE, Hermans-Borgmeyer I. Hübner CA, et al. Mech Dev. 2001 Apr;102(1-2):267-9. doi: 10.1016/s0925-4773(01)00309-4. Mech Dev. 2001. PMID: 11287208 Free article.

127

Novel mechanisms for NaCl reabsorption in the collecting duct.

Eladari D, Hübner CA. Eladari D, et al. Among authors: hubner ca. Curr Opin Nephrol Hypertens. 2011 Sep;20(5):506-11. doi: 10.1097/MNH.0b013e3283486c4a. Curr Opin Nephrol Hypertens. 2011. PMID: 21610493 Review.

128

Overexpression of pendrin in intercalated cells produces chloride-sensitive hypertension.

Jacques T, Picard N, Miller RL, Riemondy KA, Houillier P, Sohet F, Ramakrishnan SK, Büsst CJ, Jayat M, Cornière N, Hassan H, Aronson PS, Hennings JC, Hübner CA, Nelson RD, Chambrey R, Eladari D. Jacques T, et al. Among authors: hubner ca. J Am Soc Nephrol. 2013 Jun;24(7):1104-13. doi: 10.1681/ASN.2012080787. Epub 2013 Jun 13. J Am Soc Nephrol. 2013. PMID: 23766534 Free PMC article.

129

New Findings on the Pathogenesis of Distal Renal Tubular Acidosis.

Trepiccione F, Prosperi F, de la Motte LR, Hübner CA, Chambrey R, Eladari D, Capasso G. Trepiccione F, et al. Among authors: hubner ca. Kidney Dis (Basel). 2017 Dec;3(3):98-105. doi: 10.1159/000478781. Epub 2017 Aug 24. Kidney Dis (Basel). 2017. PMID: 29344504 Free PMC article. Review.

130

SorLA, a member of the LDL receptor family, is expressed in the collecting duct of the murine kidney.

Riedel IB, Hermans-Borgmeyer I, Hübner CA. Riedel IB, et al. Among authors: hubner ca. Histochem Cell Biol. 2002 Sep;118(3):183-91. doi: 10.1007/s00418-002-0445-8. Epub 2002 Jul 23. Histochem Cell Biol. 2002. PMID: 12271354

131

The three sorCS genes are differentially expressed and regulated by synaptic activity.

Hermey G, Plath N, Hübner CA, Kuhl D, Schaller HC, Hermans-Borgmeyer I. Hermey G, et al. Among authors: hubner ca. J Neurochem. 2004 Mar;88(6):1470-6. doi: 10.1046/j.1471-4159.2004.02286.x. J Neurochem. 2004. PMID: 15009648 Free article.

132

Early expression of KCC2 in rat hippocampal cultures augments expression of functional GABA synapses.

Chudotvorova I, Ivanov A, Rama S, Hübner CA, Pellegrino C, Ben-Ari Y, Medina I. Chudotvorova I, et al. Among authors: hubner ca. J Physiol. 2005 Aug 1;566(Pt 3):671-9. doi: 10.1113/jphysiol.2005.089821. Epub 2005 Jun 16. J Physiol. 2005. PMID: 15961425 Free PMC article.

133

Maternal oxytocin triggers a transient inhibitory switch in GABA signaling in the fetal brain during delivery.

Tyzio R, Cossart R, Khalilov I, Minlebaev M, Hübner CA, Represa A, Ben-Ari Y, Khazipov R. Tyzio R, et al. Among authors: hubner ca. Science. 2006 Dec 15;314(5806):1788-92. doi: 10.1126/science.1133212. Science. 2006. PMID: 17170309 Free article.

134

Coexpression and heteromerization of two neuronal K-Cl cotransporter isoforms in neonatal brain.

Uvarov P, Ludwig A, Markkanen M, Soni S, Hübner CA, Rivera C, Airaksinen MS. Uvarov P, et al. Among authors: hubner ca. J Biol Chem. 2009 May 15;284(20):13696-13704. doi: 10.1074/jbc.M807366200. Epub 2009 Mar 23. J Biol Chem. 2009. PMID: 19307176 Free PMC article.

135

The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice.

Leviel F, Hübner CA, Houillier P, Morla L, El Moghrabi S, Brideau G, Hassan H, Parker MD, Kurth I, Kougioumtzes A, Sinning A, Pech V, Riemondy KA, Miller RL, Hummler E, Shull GE, Aronson PS, Doucet A, Wall SM, Chambrey R, Eladari D. Leviel F, et al. Among authors: hubner ca. J Clin Invest. 2010 May;120(5):1627-35. doi: 10.1172/JCI40145. Epub 2010 Apr 12. J Clin Invest. 2010. PMID: 20389022 Free PMC article.

136

K-Cl cotransporter gene expression during human and murine erythroid differentiation.

Pan D, Kalfa TA, Wang D, Risinger M, Crable S, Ottlinger A, Chandra S, Mount DB, Hübner CA, Franco RS, Joiner CH. Pan D, et al. Among authors: hubner ca. J Biol Chem. 2011 Sep 2;286(35):30492-30503. doi: 10.1074/jbc.M110.206516. Epub 2011 Jul 6. J Biol Chem. 2011. PMID: 21733850 Free PMC article.

137

Rint1 inactivation triggers genomic instability, ER stress and autophagy inhibition in the brain.

Grigaravicius P, Kaminska E, Hübner CA, McKinnon PJ, von Deimling A, Frappart PO. Grigaravicius P, et al. Among authors: hubner ca. Cell Death Differ. 2016 Mar;23(3):454-68. doi: 10.1038/cdd.2015.113. Epub 2015 Sep 18. Cell Death Differ. 2016. PMID: 26383973 Free PMC article.

138

First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations.

Pilz RA, Schwefel K, Weise A, Liehr T, Demmer P, Spuler A, Spiegler S, Gilberg E, Hübner CA, Felbor U, Rath M. Pilz RA, et al. Among authors: hubner ca. Sci Rep. 2020 Apr 14;10(1):6306. doi: 10.1038/s41598-020-63337-5. Sci Rep. 2020. PMID: 32286434 Free PMC article.

139

First HPSE2 missense mutation in urofacial syndrome.

Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA. Mahmood S, et al. Among authors: hubner ca. Clin Genet. 2012 Jan;81(1):88-92. doi: 10.1111/j.1399-0004.2011.01649.x. Epub 2011 Mar 10. Clin Genet. 2012. PMID: 21332471

140

Acute vitamin B12 supplementation evokes antidepressant response and alters Ntrk-2.

Trautmann C, Bock A, Urbach A, Hübner CA, Engmann O. Trautmann C, et al. Among authors: hubner ca. Neuropharmacology. 2020 Jul;171:108112. doi: 10.1016/j.neuropharm.2020.108112. Epub 2020 Apr 23. Neuropharmacology. 2020. PMID: 32335151

141

STX1B-related epilepsy in a 24-month-old female infant.

Burghardt K, Baba N, Schreyer I, Graneß I, Hübner CA. Burghardt K, et al. Among authors: hubner ca. Epilepsy Behav Rep. 2020 Oct 14;15:100391. doi: 10.1016/j.ebr.2020.100391. eCollection 2021. Epilepsy Behav Rep. 2020. PMID: 33426515 Free PMC article.

142

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.

Neubauer BA, Stefanova I, Hübner CA, Neumaier-Probst E, Bohl J, Oppermann HC, Stö H, Hahn A, Stephani U, Kohlschütter A, Gal A. Neubauer BA, et al. Among authors: hubner ca. Neurology. 2006 Aug 22;67(4):587-91. doi: 10.1212/01.wnl.0000230133.11951.75. Neurology. 2006. PMID: 16924009

143

Cadherins and neuropsychiatric disorders.

Redies C, Hertel N, Hübner CA. Redies C, et al. Among authors: hubner ca. Brain Res. 2012 Aug 27;1470:130-44. doi: 10.1016/j.brainres.2012.06.020. Epub 2012 Jul 2. Brain Res. 2012. PMID: 22765916 Review.

144

A regulatory pathway linking caffeine action, mood and the diurnal clock.

Trautmann C, Burek D, Hübner CA, Girault JA, Engmann O. Trautmann C, et al. Among authors: hubner ca. Neuropharmacology. 2020 Aug 1;172:108133. doi: 10.1016/j.neuropharm.2020.108133. Epub 2020 May 12. Neuropharmacology. 2020. PMID: 32413367

145

Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies.

Rath M, Najm J, Sirb H, Kentouche K, Dufke A, Pauli S, Hackmann K, Liehr T, Hübner CA, Felbor U; Kompetenznetzwerk Hämorrhagische Diathesen Ost (KHDO). Rath M, et al. Among authors: hubner ca. Hamostaseologie. 2015;35 Suppl 1:S36-42. Hamostaseologie. 2015. PMID: 26540129

146

Towards Raman spectroscopy of urine as screening tool.

Žukovskaja O, Ryabchykov O, Straßburger M, Heinekamp T, Brakhage AA, Hennings CJ, Hübner CA, Wegmann M, Cialla-May D, Bocklitz TW, Weber K, Popp J. Žukovskaja O, et al. Among authors: hubner ca. J Biophotonics. 2020 Jan;13(1):e201900143. doi: 10.1002/jbio.201900143. Epub 2019 Nov 19. J Biophotonics. 2020. PMID: 31682320

147

IRP1 activation by extracellular oxidative stress in the perfused rat liver.

Mueller S, Pantopoulos K, Hübner CA, Stremmel W, Hentze MW. Mueller S, et al. Among authors: hubner ca. J Biol Chem. 2001 Jun 22;276(25):23192-6. doi: 10.1074/jbc.M100654200. Epub 2001 Apr 10. J Biol Chem. 2001. PMID: 11297549 Free article.

148

Mechanisms of hypotonic inhibition of the sodium, proton exchanger type 1 (NHE1) in a biliary epithelial cell line (Mz-Cha-1).

Elsing C, Gosch I, Hennings JC, Hübner CA, Herrmann T. Elsing C, et al. Among authors: hubner ca. Acta Physiol (Oxf). 2007 Jul;190(3):199-208. doi: 10.1111/j.1748-1716.2007.01682.x. Acta Physiol (Oxf). 2007. PMID: 17581135

149

Muscarinic acetylcholine receptor stimulation of biliary epithelial cells and its effect on bile secretion in the isolated perfused liver [corrected].

Elsing C, Hübner C, Fitscher BA, Kassner A, Stremmel W. Elsing C, et al. Hepatology. 1997 Apr;25(4):804-13. doi: 10.1002/hep.510250404. Hepatology. 1997. PMID: 9096580

150

CdSe/ZnS nanocrystals with dye-functionalized polymer ligands containing many anchor groups.

Potapova I, Mruk R, Hübner C, Zentel R, Basché T, Mews A. Potapova I, et al. Angew Chem Int Ed Engl. 2005 Apr 15;44(16):2437-40. doi: 10.1002/anie.200462236. Angew Chem Int Ed Engl. 2005. PMID: 15776486 No abstract available.

151

A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability.

Benítez EO, Morales JJ, Muñoz LA, Hübner CA, Mutchinick OM. Benítez EO, et al. Among authors: hubner ca. Mol Syndromol. 2018 Feb;9(2):110-114. doi: 10.1159/000485908. Epub 2018 Jan 18. Mol Syndromol. 2018. PMID: 29593478 Free PMC article.

152

Absorptive and secretory mechanisms in biliary epithelial cells.

Elsing C, Kassner A, Hübner C, Bühli H, Stremmel W. Elsing C, et al. J Hepatol. 1996;24 Suppl 1:121-7. J Hepatol. 1996. PMID: 8926363 Review.

153

Clinical stable systemic mastocytosis with interferon alpha-2b therapy.

Hübner C, Wedding U, Sträter J, Limberg B, Stremmel W. Hübner C, et al. J Intern Med. 1997 Jun;241(6):529-33. doi: 10.1111/j.1365-2796.1997.tb00013.x. J Intern Med. 1997. PMID: 10497631 Free article.

154

Sodium, hydrogen exchange type 1 and bile ductular secretory activity in the guinea pig.

Hübner C, Stremmel W, Elsing C. Hübner C, et al. Hepatology. 2000 Mar;31(3):562-71. doi: 10.1002/hep.510310303. Hepatology. 2000. PMID: 10706543

155

Extracellular ATP induces cytoplasmic and nuclear Ca2+ transients via P2Y2 receptor in human biliary epithelial cancer cells (Mz-Cha-1).

Elsing C, Georgiev T, Hübner CA, Boger R, Stremmel W, Schlenker T. Elsing C, et al. Among authors: hubner ca. Anticancer Res. 2012 Sep;32(9):3759-67. Anticancer Res. 2012. PMID: 22993317

156

A causative link between inner ear defects and long-term striatal dysfunction.

Antoine MW, Hübner CA, Arezzo JC, Hébert JM. Antoine MW, et al. Among authors: hubner ca. Science. 2013 Sep 6;341(6150):1120-3. doi: 10.1126/science.1240405. Science. 2013. PMID: 24009395 Free PMC article.

157

Clinical and genetic studies in patients with Lafora disease from Pakistan.

Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ. Ahmad A, et al. Among authors: hubner ca. J Neurol Sci. 2017 Feb 15;373:263-267. doi: 10.1016/j.jns.2017.01.010. Epub 2017 Jan 4. J Neurol Sci. 2017. PMID: 28131202

158

Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice.

Nolan LS, Maier H, Hermans-Borgmeyer I, Girotto G, Ecob R, Pirastu N, Cadge BA, Hübner C, Gasparini P, Strachan DP, Davis A, Dawson SJ. Nolan LS, et al. Neurobiol Aging. 2013 Aug;34(8):2077.e1-9. doi: 10.1016/j.neurobiolaging.2013.02.009. Epub 2013 Mar 26. Neurobiol Aging. 2013. PMID: 23540940 Free PMC article.

159

Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan"[J. Neurol. Sci. 373 (2017) 263-267].

Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ. Ahmad A, et al. Among authors: hubner ca. J Neurol Sci. 2017 Apr 15;375:281. doi: 10.1016/j.jns.2017.02.010. Epub 2017 Feb 12. J Neurol Sci. 2017. PMID: 28320149 No abstract available.

160

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.

Ullah MI, Ahmad A, Zarkovic M, Shah SS, Nasir A, Mahmood S, Ahmad W, Hubner CA, Hassan MJ. Ullah MI, et al. Among authors: hubner ca. Saudi Med J. 2017 Dec;38(12):1190-1195. doi: 10.15537/smj.2017.12.20989. Saudi Med J. 2017. PMID: 29209666 Free PMC article.

161

Structural and functional annotation of PR/SET Domain (PRDM) protein family: In-silico study elaborating role of PRDM12 mutation in congenital insensitivity to pain.

Mehmood S, Dad R, Ahmad A, Ullah MI, John P, Ali A, Hubner CA, Mohyuddin A, Hassan MJ. Mehmood S, et al. Among authors: hubner ca. Comput Biol Chem. 2020 Dec;89:107382. doi: 10.1016/j.compbiolchem.2020.107382. Epub 2020 Sep 24. Comput Biol Chem. 2020. PMID: 33010785

162

Activation of polymorphonuclear neutrophils in patients with impaired left ventricular function.

Rudolph V, Rudolph TK, Hennings JC, Blankenberg S, Schnabel R, Steven D, Haddad M, Knittel K, Wende S, Wenzel J, Münzel T, Heitzer T, Meinertz T, Hübner C, Baldus S. Rudolph V, et al. Free Radic Biol Med. 2007 Oct 15;43(8):1189-96. doi: 10.1016/j.freeradbiomed.2007.07.016. Epub 2007 Jul 19. Free Radic Biol Med. 2007. PMID: 17854714

163

Knockdown of INPP5K compromises the differentiation of N2A cells.

Manzolillo A, Gresing L, Hübner CA, Franzka P. Manzolillo A, et al. Among authors: hubner ca. Front Mol Neurosci. 2024 Mar 15;17:1356343. doi: 10.3389/fnmol.2024.1356343. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38559586 Free PMC article.

164

Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Among authors: hubner ca. Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print. Brain. 2024. PMID: 38527963

165

Consequences of GMPPB deficiency for neuromuscular development and maintenance.

Schurig MK, Umeh O, Henze H, Jung MJ, Gresing L, Blanchard V, von Maltzahn J, Hübner CA, Franzka P. Schurig MK, et al. Among authors: hubner ca. Front Mol Neurosci. 2024 Feb 14;17:1356326. doi: 10.3389/fnmol.2024.1356326. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38419795 Free PMC article.

166

Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.

Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, Davis MY, Kaindl J, Stolzer I, Süß P, Khundadze M, Hübner CA, Riemenschneider MJ, Baets J, Günther C, Jayadev S, Rothhammer V, Krach F, Winkler J, Winner B, Regensburger M. Krumm L, et al. Among authors: hubner ca. Acta Neuropathol. 2024 Feb 2;147(1):28. doi: 10.1007/s00401-023-02675-w. Acta Neuropathol. 2024. PMID: 38305941 Free PMC article.

167

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: hubner ca. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063

168

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.

Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Maroofian R, et al. Among authors: hubner ca. Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054405 Free article.

169

Slc12a2 loss in insulin-secreting β-cells links development of overweight and metabolic dysregulation to impaired satiation control of feeding.

Rathod YD, Abdelgawad R, Hübner CA, Di Fulvio M. Rathod YD, et al. Among authors: hubner ca. Am J Physiol Endocrinol Metab. 2023 Nov 1;325(5):E581-E594. doi: 10.1152/ajpendo.00197.2023. Epub 2023 Oct 11. Am J Physiol Endocrinol Metab. 2023. PMID: 37819196 Free PMC article.

170

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: hubner ca. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.

171

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. Fasham J, et al. Among authors: hubner ca. Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235. Brain. 2023. PMID: 37459438 Free PMC article.

172

Bumetanide induces post-traumatic microglia-interneuron contact to promote neurogenesis and recovery.

Tessier M, Garcia MS, Goubert E, Blasco E, Consumi A, Dehapiot B, Tian L, Molinari F, Laurin J, Guillemot F, Hübner CA, Pellegrino C, Rivera C. Tessier M, et al. Among authors: hubner ca. Brain. 2023 Oct 3;146(10):4247-4261. doi: 10.1093/brain/awad132. Brain. 2023. PMID: 37082944 Free PMC article.

173

Triac Treatment Prevents Neurodevelopmental and Locomotor Impairments in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice.

Chen J, Salveridou E, Liebmann L, Sundaram SM, Doycheva D, Markova B, Hübner CA, Boelen A, Visser WE, Heuer H, Mayerl S. Chen J, et al. Among authors: hubner ca. Int J Mol Sci. 2023 Feb 9;24(4):3452. doi: 10.3390/ijms24043452. Int J Mol Sci. 2023. PMID: 36834863 Free PMC article.

174

Impact of Hypermannosylation on the Structure and Functionality of the ER and the Golgi Complex.

Franzka P, Schüler SC, Kentache T, Storm R, Bock A, Katona I, Weis J, Buder K, Kaether C, Hübner CA. Franzka P, et al. Among authors: hubner ca. Biomedicines. 2023 Jan 6;11(1):146. doi: 10.3390/biomedicines11010146. Biomedicines. 2023. PMID: 36672654 Free PMC article.

175

Loss of Slc12a2 specifically in pancreatic β-cells drives metabolic syndrome in mice.

Abdelgawad R, Rathod YD, Alshammari M, Kelly L, Hübner CA, Aguilar-Bryan L, Di Fulvio M. Abdelgawad R, et al. Among authors: hubner ca. PLoS One. 2022 Dec 29;17(12):e0279560. doi: 10.1371/journal.pone.0279560. eCollection 2022. PLoS One. 2022. PMID: 36580474 Free PMC article.

176

Expression patterns of NKCC1 in neurons and non-neuronal cells during cortico-hippocampal development.

Kurki SN, Uvarov P, Pospelov AS, Trontti K, Hübner AK, Srinivasan R, Watanabe M, Hovatta I, Hübner CA, Kaila K, Virtanen MA. Kurki SN, et al. Among authors: hubner ak, hubner ca. Cereb Cortex. 2023 May 9;33(10):5906-5923. doi: 10.1093/cercor/bhac470. Cereb Cortex. 2023. PMID: 36573432 Free PMC article.

177

Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia.

Refisch A, Komatsuzaki S, Ungelenk M, Schumann A, Chung HY, Schilling SS, Jantzen W, Schröder S, Nöthen MM, Mühleisen TW, Hübner CA, Bär KJ. Refisch A, et al. Among authors: hubner ca. Genes (Basel). 2022 Nov 16;13(11):2132. doi: 10.3390/genes13112132. Genes (Basel). 2022. PMID: 36421807 Free PMC article.

178

Altered mannose metabolism in chronic stress and depression is rapidly reversed by vitamin B12.

Franzka P, Turecki G, Cubillos S, Kentache T, Steiner J, Walter M, Hübner CA, Engmann O. Franzka P, et al. Among authors: hubner ca. Front Nutr. 2022 Oct 13;9:981511. doi: 10.3389/fnut.2022.981511. eCollection 2022. Front Nutr. 2022. PMID: 36313076 Free PMC article.

179

Genetic disruption of slc4a10 alters the capacity for cellular metabolism and vectorial ion transport in the choroid plexus epithelium.

Christensen IB, Wu Q, Bohlbro AS, Skals MG, Damkier HH, Hübner CA, Fenton RA, Praetorius J. Christensen IB, et al. Among authors: hubner ca. Fluids Barriers CNS. 2020 Jan 7;17(1):2. doi: 10.1186/s12987-019-0162-5. Fluids Barriers CNS. 2020. PMID: 31906971 Free PMC article.

180

Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cells.

Liebmann L, Beetz C, Thorwarth M, Deufel T, Hübner C. Liebmann L, et al. Among authors: hubner c. J Stem Cells Regen Med. 2012 Apr 30;8(1):35-6. doi: 10.46582/jsrm.0801006. eCollection 2012. J Stem Cells Regen Med. 2012. PMID: 24693191 Free PMC article.

181

Nhe1 is a luminal Na+/H+ exchanger in mouse choroid plexus and is targeted to the basolateral membrane in Ncbe/Nbcn2-null mice.

Damkier HH, Prasad V, Hübner CA, Praetorius J. Damkier HH, et al. Among authors: hubner ca. Am J Physiol Cell Physiol. 2009 Jun;296(6):C1291-300. doi: 10.1152/ajpcell.00062.2009. Epub 2009 Apr 15. Am J Physiol Cell Physiol. 2009. PMID: 19369449 Free PMC article.

182

Expression of anion exchanger 3 influences respiratory rate in awake and isoflurane anesthetized mice.

Meier S, Hübner CA, Groeben H, Peters J, Bingmann D, Wiemann M. Meier S, et al. Among authors: hubner ca. J Physiol Pharmacol. 2007 Nov;58 Suppl 5(Pt 1):371-8. J Physiol Pharmacol. 2007. PMID: 18204149 Free article.

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