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Article

Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures.

Scientific reports - 1 Dec 2015

Sauter Claude, Lorber Bernard, Gaudry Agnès, Karim Loukmane, Schwenzer Hagen, Wien Frank, Roblin Pierre, Florentz Catherine, Sissler Marie

Abstract excerpt

Mutations in human mitochondrial aminoacyl-tRNA synthetases are associated with a variety of neurodegenerative disorders. The effects of these mutations on the structure and function of the enzymes remain to be established. Here, we investigate six mutants of the aspartyl-tRNA synthetase correlated with leukoencephalopathies. Our integrated strategy, combining an ensemble of biochemical and biophysical...

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Identifiers

PMID: 26620921
DOI: 10.1038/srep17332
PMCID: PMC4664897

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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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