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Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.
Van Lent J, Prior R, Pérez Siles G, Cutrupi AN, Kennerson ML, Vangansewinkel T, Wolfs E, Mukherjee-Clavin B, Nevin Z, Judge L, Conklin B, Tyynismaa H, Clark AJ, Bennett DL, Van Den Bosch L, Saporta M, Timmerman V. Van Lent J, et al. Among authors: perez siles g. Exp Mol Med. 2024 Jun;56(6):1348-1364. doi: 10.1038/s12276-024-01250-x. Epub 2024 Jun 3. Exp Mol Med. 2024. PMID: 38825644 Free PMC article. Review.
Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.
Narayanan RK, Brewer MH, Perez-Siles G, Ellis M, Ly C, Burgess A, Neumann B, Nicholson GA, Vucic S, Kennerson ML. Narayanan RK, et al. Among authors: perez siles g. Hum Mol Genet. 2021 Dec 17;31(1):133-145. doi: 10.1093/hmg/ddab228. Hum Mol Genet. 2021. PMID: 34387338 Free PMC article.
17 results