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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: delprat b. Hum Mol Genet. 2021 Sep 15;30(19):1785-1796. doi: 10.1093/hmg/ddab145. Hum Mol Genet. 2021. PMID: 34059922
Wolfram syndrome: MAMs' connection?
Delprat B, Maurice T, Delettre C. Delprat B, et al. Cell Death Dis. 2018 Mar 6;9(3):364. doi: 10.1038/s41419-018-0406-3. Cell Death Dis. 2018. PMID: 29511163 Free PMC article. Review.
Use of Zebrafish Models to Boost Research in Rare Genetic Diseases.
Crouzier L, Richard EM, Sourbron J, Lagae L, Maurice T, Delprat B. Crouzier L, et al. Among authors: delprat b. Int J Mol Sci. 2021 Dec 12;22(24):13356. doi: 10.3390/ijms222413356. Int J Mol Sci. 2021. PMID: 34948153 Free PMC article. Review.
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: delprat b. 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.
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: delprat b. Hum Mol Genet. 2022 Aug 23;31(16):2711-2727. doi: 10.1093/hmg/ddac065. Hum Mol Genet. 2022. PMID: 35325133 Free PMC article.
36 results