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

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

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 mo...

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Bibliographic Details
Main Authors: Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Format: Article
Language:English
Published: The Company of Biologists 2020-02-01
Series:Disease Models & Mechanisms
Subjects:
atp7a
copper
induced pluripotent stem cell
motor neurons
dhmn
Online Access:http://dmm.biologists.org/content/13/2/dmm041541

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