Article
GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton
2021-03-05
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease 4A is an autosomal-recessive polyneuropathy caused by mutations of ganglioside-induced differentiation-associated protein 1 (GDAP1), a putative glutathione transferase, which affects mitochondrial shape and alters cellular Ca 2+ homeostasis. Here, we identify the underlying mechanism. We found that patient-derived motoneurons and GDAP1 knockdown SH-SY5Y cells display two phenoty...
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Identifiers and source
- Literature Corpus work
- b0c43d3b-35ff-57ea-ac7e-3ca1e6907386
- DOI
- 10.1101/2021.03.04.433895
