Article

GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton

2021-03-09

Abstract excerpt

<title>Abstract</title> <p>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 calcium homeostasis. Here, we identify the underlying mechanism. We found that patient-derived motoneurons and GDAP1 knockdown SH-SY...

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Literature Corpus work: fea0fc04-9c3f-5c1f-bfb6-8add1aa6efa3
DOI: 10.21203/rs.3.rs-209468/v1

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