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Searching for non-canonical functions of aminoacyl-tRNA synthases based on mutations carried by Charcot-Marie-Tooth patients

Postepy biochemii - 31 Mar 2023

Misiorek Julia O

Abstract excerpt

Charcot-Marie-Tooth (CMT) is a genetic, incurable neurodegenerative disease which etiology is linked to mutations in almost hundred different genes. The disease affects peripheral nerves which control muscle work and their myelin sheath resulting in progressive muscular dystrophy. The most remarkable genes which mutations are associated with CMT phenotype, are genes encoding aminoacyl-tRNA synthases (aaRS). These...

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PMID: 37493554
DOI: 10.18388/pb.2021_481

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