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Article

Recessive AARS1 variants perturb human and mouse development.

HGG advances - 9 Apr 2026

Watts Jennifer L, Costantino Nicole, Husami Ammar, Dayarathna Thamara, Willeke Logan, Peña Loren D M, Seiwert Elizabeth, Gilbert Donald L, Stottmann Rolf W

Abstract excerpt

Humans with pathogenic loss of function alanyl-tRNA synthetase 1 (AARS1) variants have a range of congenital brain phenotypes, including a high prevalence of microcephaly. The molecular mechanisms for this are unclear but zebrafish mutants in aars1 have reduced neurogenesis and increased apoptosis. Here, we report two individuals with compound heterozygous AARS1 variants. We created two mouse models to study the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41508610
DOI: 10.1016/j.xhgg.2026.100565
PMCID: PMC12859473

Genes

AARS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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