Associated Papers
Recessive AARS1 variants perturb human and mouse development.
Watts JL et al.
Hgg Advances, 2026
Recessive, pathogenic AARS1 variants display variable loss-of-function and dominant-negative effects.
Kuo ME et al.
Disease Models & Mechanisms, 2025
Comprehensive assessment of recessive, pathogenic AARS1 alleles in a humanized yeast model reveals loss-of-function and dominant-negative effects.
Kuo ME et al.
Biorxiv : the Preprint Server for Biology, 2024
An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia.
Wu J et al.
Translational Neurodegeneration, 2023
Expanded phenotype of AARS1-related white matter disease.
Helman G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The uniqueness of AlaRS and its human disease connections.
Zhang H et al.
Rna Biology, 2021
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.
Sundal C et al.
Acta Neuropathologica Communications, 2019
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Nakayama T et al.
Human Mutation, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
Bansagi B et al.
Journal of Neurology, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Simons C et al.
American Journal of Human Genetics, 2015
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