Article
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction.
Brain : a journal of neurology - 4 Sept 2021
Van Lent Jonas, Verstraelen Peter, Asselbergh Bob, Adriaenssens Elias, Mateiu Ligia, Verbist Christophe, De Winter Vicky, Eggermont Kristel, Van Den Bosch Ludo, De Vos Winnok H, Timmerman Vincent
Abstract excerpt
Axonal Charcot-Marie-Tooth neuropathies (CMT type 2) are caused by inherited mutations in various genes functioning in different pathways. The types of genes and multiplicity of mutations reflect the clinical and genetic heterogeneity in CMT2 disease, which complicates its diagnosis and has inhibited the development of therapies. Here, we used CMT2 patient-derived pluripotent stem cells (iPSCs) to identify common...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
