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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 
Unknown'It depends on who is asking and why they will use it': Access to male condoms in Timor-Leste.
Not available
S-EPMC10540955 | biostudies-literature
TranscriptomicsWhole Genome Sequencing Informs Therapeutic Selection for Pancreatic Cancer
Pancreatic cancer remains one of the most lethal of malignancies and a major health burden. We performed whole genome sequencing and CNV analysis of 100 pancreatic ductal adenocarcinomas. Chromosomal rearrangements leading to gene disruption were frequent, affecting genes known to be important in pa...
ORGANISM(S): Homo sapiens 
2015-02-27 | E-GEOD-61502 | biostudies-arrayexpress
UnknownNeuromuscular electrical stimulation of the quadriceps in patients with non-small cell lung cancer receiving palliative chemotherapy: a randomized phase II study.
Not available
S-EPMC3875585 | biostudies-literature
ProteomicsTyrosine supplementation rescues a growth defect in a humanized ¬S. cerevisiae model of YARS1 associated CMT-DI
Dominant pathogenic alleles in tyrosyl-tRNA synthetase (YARS1) are associated with Charcot–Marie–Tooth disease (CMT), a progressive peripheral neuropathy for which no disease-modifying therapies currently exist. While recent advances in amino acid supplementation therapies suggest potential benefit ...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2026-09-14 | PXD078702 | Pride
Amino acid supplementation Transfer rna Aminoacyl-trna synthetase Ars disease 
UnknownFitness Effect of the Isoniazid Resistance Mutation S315T of the Catalase-Peroxidase Enzyme KatG of Mycobacterium tuberculosis.
Not available
S-EPMC12242383 | biostudies-literature
UnknownAssessing the medium-term impact of a home-visiting programme on child maltreatment in England: protocol for a routine data linkage study.
Not available
S-EPMC5734359 | biostudies-literature
UnknownLocal human impacts disrupt depth-dependent zonation of tropical reef fish communities.
Not available
S-EPMC10627831 | biostudies-literature
UnknownAn original mode of symbiosis in open ocean plankton.
Not available
S-EPMC3497740 | biostudies-literature
UnknownSignal Peptide Efficiency: From High-Throughput Data to Prediction and Explanation.
Not available
S-EPMC9942255 | biostudies-literature
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