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ProteomicsHistidine supplementation can escalate or rescue HARS deficiency in a Charcot Marie Tooth Disease model
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes responsible for charging amino acids onto cognate tRNAs during protein synthesis¬. In histidyl-tRNA synthetase (HARS), autosomal dominant mutations in the HARS catalytic domain are associated with Charcot Marie Tooth Disease Type 2W (CMT2W), wh...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2023-03-10 | PXD034865 | Pride
Histidyl-trna synthetase (hars) Transfer rna Genetic disease Proteome Protein synthesis 
ProteomicsPhenotypic rescue of a novel heterozygous HARS L400F variant associated with Charcot-Marie-Tooth disease
Cytoplasmic histidyl-tRNA synthetase (HARS1) is an essential protein in translation ligating histidine to its cognate tRNAHis. HARS1 is one of several aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth Disease, an axonal peripheral neuropathy. Advances in genetic testing identify many var...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2026-03-02 | PXD067079 | Pride
Histidyl-trna synthetase Protein translation Charcot-marie-tooth disease 
UnknownA single Danio rerio hars gene encodes both cytoplasmic and mitochondrial histidyl-tRNA synthetases.
Not available
S-EPMC5608375 | biostudies-literature
UnknownSubstrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Not available
S-EPMC5983030 | biostudies-literature
UnknownThe Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity.
Not available
S-EPMC9677509 | biostudies-literature
UnknownKnock-Down of Histidyl-tRNA Synthetase Causes Cell Cycle Arrest and Apoptosis of Neuronal Progenitor Cells in vivo.
Not available
S-EPMC6524715 | biostudies-literature
ProteomicsTransfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth Disease
Aminoacyl-tRNA synthetases are indispensable enzymes in all cells, ensuring the correct pairing of amino acids to their cognate tRNAs to maintain translational fidelity. Autosomal dominant mutations V133F and Y330C in histidyl-tRNA synthetase (HARS) cause the genetic disorder Charcot-Marie-Tooth typ...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2025-05-06 | PXD050340 | Pride
Mistranslation Proteomics Charcot-marie-tooth disease 
UnknownCharacterization of a novel heterozygous variant in the histidyl-tRNA synthetase gene associated with Charcot-Marie-Tooth disease type 2W.
Not available
S-EPMC11580374 | biostudies-literature
UnknownMutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.
Not available
S-EPMC3081023 | biostudies-literature
UnknownTowards a Cure for HARS Disease.
Not available
S-EPMC9956352 | biostudies-literature
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