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Article

Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2.

Protein science : a publication of the Protein Society - 1 Aug 2017

Kartvelishvili Ekaterine, Tworowski Dmitry, Vernon Hilary, Moor Nina, Wang Jing, Wong Lee-Jun, Chrzanowska-Lightowlers Zofia, Safro Mark

Abstract excerpt

Mutations in the mitochondrial aminoacyl-tRNA synthetases (mtaaRSs) can cause profound clinical presentations, and have manifested as diseases with very selective tissue specificity. To date most of the mtaaRS mutations could be phenotypically recognized, such that clinicians could identify the affected mtaaRS from the symptoms alone. Among the recently reported pathogenic variants are point mutations in FARS2...

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Identifiers

PMID: 28419689
DOI: 10.1002/pro.3176
PMCID: PMC5521548

Genes

FARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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