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862 results

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Autophagy regulator ATG5 preserves cerebellar function by safeguarding its glycolytic activity.
Tutas J, Tolve M, Özer-Yildiz E, Ickert L, Klein I, Silverman Q, Liebsch F, Dethloff F, Giavalisco P, Endepols H, Georgomanolis T, Neumaier B, Drzezga A, Schwarz G, Thorens B, Gatto G, Frezza C, Kononenko NL. Tutas J, et al. Among authors: schwarz g. Nat Metab. 2025 Jan 15. doi: 10.1038/s42255-024-01196-4. Online ahead of print. Nat Metab. 2025. PMID: 39815080
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.
Macha A, Liebsch F, Fricke S, Hetsch F, Neuser F, Johannes L, Kress V, Djémié T, Santamaria-Araujo JA, Vilain C, Aeby A, Van Bogaert P, Dejanovic B, Weckhuysen S, Meier JC, Schwarz G. Macha A, et al. Among authors: schwarz g. Hum Mol Genet. 2022 Mar 21;31(6):901-913. doi: 10.1093/hmg/ddab298. Hum Mol Genet. 2022. PMID: 34617111
S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency.
Kumar A, Dejanovic B, Hetsch F, Semtner M, Fusca D, Arjune S, Santamaria-Araujo JA, Winkelmann A, Ayton S, Bush AI, Kloppenburg P, Meier JC, Schwarz G, Belaidi AA. Kumar A, et al. Among authors: schwarz g. J Clin Invest. 2017 Dec 1;127(12):4365-4378. doi: 10.1172/JCI89885. Epub 2017 Nov 6. J Clin Invest. 2017. PMID: 29106383 Free PMC article.
862 results