Associated Papers
Recessive, pathogenic AARS1 variants display variable loss-of-function and dominant-negative effects.
Kuo ME et al.
Disease Models & Mechanisms, 2025
Case Report: Decoding genetic risks of vascular parkinsonism: a case series.
Shalash A et al.
Frontiers in Genetics, 2025
40786864 (PubMed )
Supplement: Table1.xlsx › S.table1
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
Impact of alanyl-tRNA synthetase editing deficiency in yeast.
Zhang H et al.
Nucleic Acids Research, 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
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