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Article

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

BMC genomics - 4 Dec 2014

Datt Manish, Sharma Amit

Abstract excerpt

BACKGROUND: Mutation(s) in proteins are a natural byproduct of evolution but can also cause serious diseases. Aminoacyl-tRNA synthetases (aaRSs) are indispensable components of all cellular protein translational machineries, and in humans they drive translation in both cytoplasm and mitochondria. Mutations in aaRSs have been implicated in a plethora of diseases including neurological conditions, metabolic...

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Identifiers

PMID: 25476837
DOI: 10.1186/1471-2164-15-1063
PMCID: PMC4298046

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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