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Article

Glycyl-tRNA sequestration is a unifying mechanism underlying GARS1-associated peripheral neuropathy.

Nucleic acids research - 20 Mar 2025

Mora Natalia, Slot Erik F J, Lewandowski Vanessa, Menafra Maria P, Mallik Moushami, van Lith Pascal, Sijlmans Céline, van Bakel Nick, Ignatova Zoya, Storkebaum Erik

Abstract excerpt

Dominantly inherited mutations in eight cytosolic aminoacyl-tRNA synthetase genes cause hereditary motor and sensory neuropathy, characterized by degeneration of peripheral motor and sensory axons. We previously identified a pathogenic gain-of-toxic function mechanism underlying peripheral neuropathy (PN) caused by heterozygous mutations in the GARS1 gene, encoding glycyl-tRNA synthetase (GlyRS). Specifically,...

Read the complete abstract on PubMed

Topics

Animals
Glycine-tRNA Ligase
Humans
Peripheral Nervous System Diseases
RNA, Transfer, Gly
Disease Models, Animal

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Drosophila melanogaster

Mutation

Drosophila Proteins

Drosophila

Source

Open in PubMed Open full text

Identifiers

PMID: 40119731
DOI: 10.1093/nar/gkaf201
PMCID: PMC11928938

Genes

GARS1

Provenance

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Glycyl-tRNA sequestration is a unifying mechanism underlying GARS1-associated peripheral neuropathy.PMID 40119731Read ↗

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