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Article

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.

Disease models & mechanisms - 13 Jan 2020

Perez-Siles Gonzalo, Cutrupi Anthony, Ellis Melina, Kuriakose Jakob, La Fontaine Sharon, Mao Di, Uesugi Motonari, Takata Reinaldo I, Speck-Martins Carlos E, Nicholson Garth, Kennerson Marina L

Abstract excerpt

ATP7A encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of motor neurons. We have generated induced pluripotent stem cell (iPSC)-derived motor neurons from a patient with the p.T994I ATP7A gene mutation as an in vitro model for X-linked dHMN (dHMNX)....

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Identifiers

PMID: 31969342
DOI: 10.1242/dmm.041541
PMCID: PMC6994953

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