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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
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2008 4
2009 3
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2014 3
2015 5
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2020 9
2021 15
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Page 1
The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.
Rousseau J, Tene Tadoum SB, Lavertu Jolin M, Nguyen TTM, Ajeawung NF, Flenniken AM, Nutter LMJ, Vukobradovic I, Rossignol E, Campeau PM. Rousseau J, et al. Genes (Basel). 2023 Jul 27;14(8):1538. doi: 10.3390/genes14081538. Genes (Basel). 2023. PMID: 37628590 Free PMC article.
Many genes encoding subunits of V-ATPases, namely ATP6V0C, ATP6V1A, ATP6V0A1, and ATP6V1B2, have been associated with neurodevelopmental disorders and epilepsy. ...Our results confirm that variants in ATP6V1B2 can cause seizures and that the Atp6v1b2(emR506*) …
Many genes encoding subunits of V-ATPases, namely ATP6V0C, ATP6V1A, ATP6V0A1, and ATP6V1B2, have been associated with neurodevelopmen …
ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F. Inuzuka LM, et al. Epileptic Disord. 2020 Jun 1;22(3):317-322. doi: 10.1684/epd.2020.1166. Epileptic Disord. 2020. PMID: 32597767
ATP6V1B2 encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning of several acid hydrolases. ...Herein, we report a case of an infant with severe epileptic encephalopathy with microcephaly and profound developmental delay, associated …
ATP6V1B2 encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning of several acid hydrolases. …
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview.
Amore G, Calì E, Spanò M, Ceravolo G, Mangano GD, Scorrano G, Efthymiou S, Salpietro V, Houlden H, Di Rosa G. Amore G, et al. Brain Dev. 2023 Nov;45(10):588-596. doi: 10.1016/j.braindev.2023.07.004. Epub 2023 Aug 25. Brain Dev. 2023. PMID: 37633739
Variants in ATP6V1B2 have been related to a heterogeneous group of multisystemic disorders sometimes associated with variable neurological involvement. However, our knowledge of genotype-phenotype correlations and the neurological spectrum of ATP6V1B2-related disord …
Variants in ATP6V1B2 have been related to a heterogeneous group of multisystemic disorders sometimes associated with variable neurolo …
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM. Beauregard-Lacroix E, et al. Genet Med. 2021 Jan;23(1):149-154. doi: 10.1038/s41436-020-00950-9. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873933 Free article.
METHODS: Exome or Sanger sequencing was performed in individuals with a clinical diagnosis of DOORS syndrome without TBC1D24 variants. RESULTS: We identified the same truncating variant in ATP6V1B2 (NM_001693.4:c.1516C>T; p.Arg506*) in nine individuals from eight unrela …
METHODS: Exome or Sanger sequencing was performed in individuals with a clinical diagnosis of DOORS syndrome without TBC1D24 variants. RESUL …
Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux.
Qiu S, Zhao W, Gao X, Li D, Wang W, Gao B, Han W, Yang S, Dai P, Cao P, Yuan Y. Qiu S, et al. Front Cell Dev Biol. 2021 Oct 21;9:742714. doi: 10.3389/fcell.2021.742714. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34746137 Free PMC article.
However, the underlying mechanisms remain unclear. To investigate the pathological role of mutant ATP6V1B2 in the auditory system, we evaluated auditory brainstem response, distortion product otoacoustic emissions, in a transgenic line of mice carrying c.1516 C > T (p.A …
However, the underlying mechanisms remain unclear. To investigate the pathological role of mutant ATP6V1B2 in the auditory system, we …
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
Veltra D, Kosma K, Papavasiliou A, Tilemis FN, Traeger-Synodinos J, Sofocleous C. Veltra D, et al. Am J Med Genet A. 2022 Dec;188(12):3563-3566. doi: 10.1002/ajmg.a.62971. Epub 2022 Sep 22. Am J Med Genet A. 2022. PMID: 36135319
Epilepsy was first linked to ATP6V1B2, when the p.(Glu374Gln) missense variant was detected in a patient with ID and seizures, but without characteristic features of DDOD or ZLS2 syndromes. We herein report a novel pathogenic ATP6V1B2:p.Glu374Gly variant detected in …
Epilepsy was first linked to ATP6V1B2, when the p.(Glu374Gln) missense variant was detected in a patient with ID and seizures, but wi …
A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.
Zhao W, Gao X, Qiu S, Gao B, Gao S, Zhang X, Kang D, Han W, Dai P, Yuan Y. Zhao W, et al. EBioMedicine. 2019 Jul;45:408-421. doi: 10.1016/j.ebiom.2019.06.035. Epub 2019 Jun 27. EBioMedicine. 2019. PMID: 31257146 Free PMC article.
Clinical follow-up of DDOD syndrome patients with cochlear implantation revealed the language rehabilitation was unsatisfactory although the implanted cochlea worked well, which indicates there might be learning and memory problems in DDOD syndrome patients. However, the underlyi …
Clinical follow-up of DDOD syndrome patients with cochlear implantation revealed the language rehabilitation was unsatisfactory although the …
Endolysosomal impairment by binding of amyloid beta or MAPT/Tau to V-ATPase and rescue via the HYAL-CD44 axis in Alzheimer disease.
Kim SH, Cho YS, Kim Y, Park J, Yoo SM, Gwak J, Kim Y, Gwon Y, Kam TI, Jung YK. Kim SH, et al. Autophagy. 2023 Aug;19(8):2318-2337. doi: 10.1080/15548627.2023.2181614. Epub 2023 Feb 26. Autophagy. 2023. PMID: 36843263 Free PMC article.
Interestingly, we found that the lumenal ATP6V0C and cytosolic ATP6V1B2 subunits of the V-ATPase complex bound to the internalized Abeta and cytosolic PHF-1-reactive MAPT/Tau, respectively. ...We propose that endolysosomal V-ATPase is a bona fide proteotoxic receptor that …
Interestingly, we found that the lumenal ATP6V0C and cytosolic ATP6V1B2 subunits of the V-ATPase complex bound to the internalized Ab …
SIRT1 Interacts with and Deacetylates ATP6V1B2 in Mature Adipocytes.
Kim SY, Zhang Q, Brunmeir R, Han W, Xu F. Kim SY, et al. PLoS One. 2015 Jul 15;10(7):e0133448. doi: 10.1371/journal.pone.0133448. eCollection 2015. PLoS One. 2015. PMID: 26177453 Free PMC article.
We identified a number of proteins whose acetylation status was significantly affected by SIRT1 modulator treatment in 3T3-L1 adipocytes. Among them, ATP6V1B2, a subunit of the vacuolar (H+)-ATPase, was further shown to be associated with SIRT1 by co-immunoprecipitation as …
We identified a number of proteins whose acetylation status was significantly affected by SIRT1 modulator treatment in 3T3-L1 adipocytes. Am …
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM. Beauregard-Lacroix E, et al. Genet Med. 2021 Jan;23(1):237. doi: 10.1038/s41436-020-00969-y. Genet Med. 2021. PMID: 32934366 Free article. No abstract available.
71 results