Article

Abnormal Redox Balance at Membrane Contact Sites Causes Axonopathy in Gdap1-related Charcot-marie-tooth Disease

2024-12-31

Abstract excerpt

<title>Abstract</title> <p>Pathogenic variants of GDAP1 cause Charcot-Marie-Tooth disease (CMT), an inherited neuropathy characterized by axonal degeneration. GDAP1, an atypical glutathione S-transferase, localizes to the outer mitochondrial membrane (OMM), regulating this organelle's dynamics, transport, and membrane contact sites (MCSs). It has been proposed that GDAP1 functions as a cellular redox sensor. Howe...

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Literature Corpus work: 5aafbbf8-2d2d-5683-87cb-90acdc89f9ac
DOI: 10.21203/rs.3.rs-5682984/v1

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