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ProteomicsClinical and molecular characteristics indicate mitochondrial dysfunction in Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
Introduction Aminoacyl tRNA-synthetases are ubiquitously expressed enzymes that attach amino acids to their cognate tRNA molecule. Mutations in several of the aminoacyl tRNA-syntheases are described to cause peripheral neuropathy, i.e. AARS1, GARS1, HARS1, YARS1 and WARS1. The Alanyl-tRNA Synthetase...
ORGANISM(S): Homo sapiens (Human) 
2022-10-14 | PXD023842 | Pride
Proteomics Cmt2 Mitochondrial dysfunction Peripheral neuropathy Aars1 
GenomicsTranscriptomes analyses of AARS1 knockdown HGC-27 cells treated with lactate
Transcriptomes analyses of AARS1 knockdown HGC-27 cells treated with lactate
PRJNA826823 | ENA
UnknownRecessive AARS1 variants perturb human and mouse development.
Not available
S-EPMC12859473 | biostudies-literature
ProteomicsMETTL21C methylates Alanine tRNA synthetase at lysine 943 in muscle tissue
Protein lysine methylation is a common post-translational modification (PTM) detected throughout the human proteome that plays important roles in diverse biological processes. In the human genome, there are greater than one hundred known and candidate protein lysine methyltransferases (PKMTs), many ...
ORGANISM(S): Homo sapiens (Human) 
2020-07-02 | PXD019886 | Pride
Human Methylation Aars1 Lc-ms/ms 
TranscriptomicsTranscriptomes analyses of AARS1 knockdown HGC-27 cells treated with lactate
To investigat the role of AARS1 in HGC27 cells treated with lactate, we transfected HGC27 cells with AARS1 siRNA and then treated the cells with 25mM lactate for 24h
ORGANISM(S): Homo sapiens 
2024-05-29 | GSE200789 | GEO
UnknownRecurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency.
Not available
S-EPMC7691605 | biostudies-literature
UnknownAARS1 and AARS2: From Protein Synthesis to Lactylation-Driven Oncogenesis.
Not available
S-EPMC12467997 | biostudies-literature
UnknownRecessive, pathogenic AARS1 variants display variable loss-of-function and dominant-negative effects.
Not available
S-EPMC12233060 | biostudies-literature
UnknownThe alanyl-tRNA synthetase AARS1 moonlights as a lactyltransferase to promote YAP signaling in gastric cancer.
Not available
S-EPMC11093599 | biostudies-literature
UnknownClinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.
Not available
S-EPMC9377087 | biostudies-literature
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