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A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Rauschenberger K, Schöler K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kölker S, Schwarz H, Fischer C, Grziwa B, Runz H, Nümann A, Shafqat N, Kavanagh KL, Hämmerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J. Rauschenberger K, et al. Among authors: numann a. EMBO Mol Med. 2010 Feb;2(2):51-62. doi: 10.1002/emmm.200900055. EMBO Mol Med. 2010. PMID: 20077426 Free PMC article.
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.
Jensen LR, Bartenschlager H, Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S, Raynaud M, Nelson J, Hackett A, Fryns JP, Chelly J, de Brouwer AP, Hamel B, Gecz J, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: numann a. Pathogenetics. 2010 Feb 2;3(1):2. doi: 10.1186/1755-8417-3-2. Pathogenetics. 2010. PMID: 20181063 Free PMC article.
Werner protein protects nonproliferating cells from oxidative DNA damage.
Szekely AM, Bleichert F, Nümann A, Van Komen S, Manasanch E, Ben Nasr A, Canaan A, Weissman SM. Szekely AM, et al. Among authors: numann a. Mol Cell Biol. 2005 Dec;25(23):10492-506. doi: 10.1128/MCB.25.23.10492-10506.2005. Mol Cell Biol. 2005. PMID: 16287861 Free PMC article.
Gait Variability as a Potential Motor Marker of Cerebellar Disease-Relationship between Variability of Stride, Arm Swing and Trunk Movements, and Walking Speed.
Kroneberg D, Nümann A, Minnerop M, Rönnefarth M, Endres M, Kühn AA, Paul F, Doss S, Solbrig S, Elshehabi M, Maetzler W, Schmitz-Hübsch T. Kroneberg D, et al. Among authors: numann a. Sensors (Basel). 2024 May 28;24(11):3476. doi: 10.3390/s24113476. Sensors (Basel). 2024. PMID: 38894268 Free PMC article.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G. Coutelier M, et al. Among authors: numann a. Brain. 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. Brain. 2022. PMID: 34788392
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