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Article

Recessive, pathogenic AARS1 variants display variable loss-of-function and dominant-negative effects.

Disease models & mechanisms - 1 Jun 2025

Kuo Molly E, Jonatzke Kira E, Parish Maclaine, Antonellis Anthony

Abstract excerpt

Alanyl-tRNA synthetase 1 (AARS1) has been implicated in multi-system recessive phenotypes and in later-onset dominant neuropathy; to date, no single variant has been associated with both dominant and recessive diseases, raising questions about shared mechanisms between the two inheritance patterns. AARS1 variants associated with recessive disease result in loss-of-function or hypomorphic alleles, and this has...

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Share to Loss of Function Mutation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40491354
DOI: 10.1242/dmm.052006
PMCID: PMC12233060

Genes

AARS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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