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Article

Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.

IUBMB life - 1 Apr 2025

Mahmood Maria, Little Emma, Girard Nicole, Wu Fanqi, Samuels Tristan, Heinemann Ilka U, Reynolds Noah M

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a genetically diverse hereditary disorder that affects the motor and sensory nerves, impacting about 1 in 2500 people. It can be inherited through autosomal dominant (AD), autosomal recessive (AR), or X-linked genetic patterns. CMT2, one of the primary subtypes, is characterized by axonal degeneration and commonly presents with muscle weakness, atrophy, foot deformities, and...

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Topics

Charcot-Marie-Tooth Disease
Humans
Amino Acyl-tRNA Synthetases
Alleles
Mutation
Saccharomyces cerevisiae

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Identifiers

PMID: 40156251
DOI: 10.1002/iub.70017
PMCID: PMC11953622

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AR

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