Article
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
Experimental neurology - 1 Jan 2015
Saporta Mario A, Dang Vu, Volfson Dmitri, Zou Bende, Xie Xinmin Simon, Adebola Adijat, Liem Ronald K, Shy Michael, Dimos John T
Abstract excerpt
OBJECTIVE: Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral neuropathies associated with mutations or copy number variations in over 70 genes encoding proteins with fundamental roles in the development and function of Schwann cells and peripheral axons. Here, we used iPSC-derived cells to identify common pathophysiological mechanisms in axonal CMT. METHODS: iPSC lines from patients with two...
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