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Article

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.

FEBS open bio - 1 Jul 2022

Sutinen Aleksi, Nguyen Giang Thi Tuyet, Raasakka Arne, Muruganandam Gopinath, Loris Remy, Ylikallio Emil, Tyynismaa Henna, Bartesaghi Luca, Ruskamo Salla, Kursula Petri

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral polyneuropathy in humans, and its different subtypes are linked to mutations in dozens of different genes. Mutations in ganglioside-induced differentiation-associated protein 1 (GDAP1) cause two types of CMT, demyelinating CMT4A and axonal CMT2K. The GDAP1-linked CMT genotypes are mainly missense point mutations. Despite clinical profiling...

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PMID: 35509130
DOI: 10.1002/2211-5463.13422
PMCID: PMC9249340

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