Varaico: Literature-Extracted Genetic Variants

Gene:AARS1
Variant:p.G102R
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AARS1

NM_001605.3:p.G102R

Associated Papers

The role of Alanyl-tRNA synthetase 1 lactylation in tumors and other diseases.

Zhou XY et al.

Discover Oncology, 2026

Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.

Mahmood M et al.

Iubmb Life, 2025

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.

Meyer-Schuman R et al.

Human Molecular Genetics, 2023

An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia.

Wu J et al.

Translational Neurodegeneration, 2023

37106376 (PubMed )
Supplement: 40035_2023_353_MOESM1_ESM.pdf

Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.

Setlere S et al.

Neurology. Genetics, 2022

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

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?

Zhang H et al.

Journal of Neurochemistry, 2021

CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.

Sun L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.

Vinogradova ES et al.

Biochemistry. Biokhimiia, 2021

Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.

Wei N et al.

The Journal of Biological Chemistry, 2019

The role of tRNA synthetases in neurological and neuromuscular disorders.

Boczonadi V et al.

Febs Letters, 2018

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

Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.

Storkebaum E

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2016

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

A novel AARS mutation in a family with dominant myeloneuropathy.

Motley WW et al.

Neurology, 2015

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