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Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML. Perez-Siles G, et al. Metallomics. 2016 Sep 1;8(9):981-92. doi: 10.1039/c6mt00082g. Epub 2016 Jun 13. Metallomics. 2016. PMID: 27293072 Free PMC article.
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