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Page 1
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
Pagnamenta AT, Heemeryck P, Martin HC, Bosc C, Peris L, Uszynski I, Gory-Fauré S, Couly S, Deshpande C, Siddiqui A, Elmonairy AA; WGS500 Consortium; Genomics England Research Consortium; Jayawant S, Murthy S, Walker I, Loong L, Bauer P, Vossier F, Denarier E, Maurice T, Barbier EL, Deloulme JC, Taylor JC, Blair EM, Andrieux A, Moutin MJ. Pagnamenta AT, et al. Among authors: maurice t. Hum Mol Genet. 2019 Oct 15;28(20):3391-3405. doi: 10.1093/hmg/ddz186. Hum Mol Genet. 2019. PMID: 31363758 Free PMC article.
Improvement of BDNF signalling by P42 peptide in Huntington's disease.
Couly S, Paucard A, Bonneaud N, Maurice T, Benigno L, Jourdan C, Cohen-Solal C, Vignes M, Maschat F. Couly S, et al. Among authors: maurice t. Hum Mol Genet. 2018 Sep 1;27(17):3012-3028. doi: 10.1093/hmg/ddy207. Hum Mol Genet. 2018. PMID: 29860423
Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines.
Crouzier L, Richard EM, Diez C, Alzaeem H, Denus M, Cubedo N, Delaunay T, Glendenning E, Baxendale S, Liévens JC, Whitfield TT, Maurice T, Delprat B. Crouzier L, et al. Among authors: maurice t. Hum Mol Genet. 2022 Aug 23;31(16):2711-2727. doi: 10.1093/hmg/ddac065. Hum Mol Genet. 2022. PMID: 35325133 Free PMC article.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Bassani S, van Beelen E, Rossel M, Voisin N, Morgan A, Arribat Y, Chatron N, Chrast J, Cocca M, Delprat B, Faletra F, Giannuzzi G, Guex N, Machavoine R, Pradervand S, Smits JJ, van de Kamp JM, Ziegler A, Amati F, Marlin S, Kremer H, Locher H, Maurice T, Gasparini P, Girotto G, Reymond A. Bassani S, et al. Among authors: maurice t. Hum Mol Genet. 2021 Sep 15;30(19):1785-1796. doi: 10.1093/hmg/ddab145. Hum Mol Genet. 2021. PMID: 34059922
Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models.
Crouzier L, Danese A, Yasui Y, Richard EM, Liévens JC, Patergnani S, Couly S, Diez C, Denus M, Cubedo N, Rossel M, Thiry M, Su TP, Pinton P, Maurice T, Delprat B. Crouzier L, et al. Among authors: maurice t. Sci Transl Med. 2022 Feb 9;14(631):eabh3763. doi: 10.1126/scitranslmed.abh3763. Epub 2022 Feb 9. Sci Transl Med. 2022. PMID: 35138910 Free PMC article.
215 results