Article

Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability

2022-09-09

Abstract excerpt

<h4>ABSTRACT</h4> Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral polyneuropathy in humans, and its subtypes are linked to mutations in dozens of different genes, including the gene coding for ganglioside-induced differentiation-associated protein 1 (GDAP1). The main GDAP1-linked CMT subtypes are the demyelinating CMT4A and the axonal CMT2K. Over a hundred different missense CMT mutation...

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Literature Corpus work: 70b03e38-49a0-5b12-99af-45fe14590255
DOI: 10.1101/2022.09.09.507262

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