Varaico: Literature-Extracted Genetic Variants

Gene:AARS1
Variant:p.D893N
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AARS1

NM_001605.3:p.D893N

Associated Papers

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

Zhou XY et al.

Discover Oncology, 2026

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

Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.

Lee AJ et al.

Genes & Genomics, 2020

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.

Sundal C et al.

Acta Neuropathologica Communications, 2019

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

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

Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.

Datt M et al.

Bmc Genomics, 2014

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations.

Wallen RC et al.

Current Opinion in Genetics & Development, 2013

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.

Zhao Z et al.

Neurology, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."