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Article

Breaking a single hydrogen bond in the mitochondrial tRNAPhe -PheRS complex leads to phenotypic pleiotropy of human disease.

The FEBS journal - 1 Sept 2020

Peretz Moshe, Tworowski Dmitry, Kartvelishvili Ekaterine, Livingston John, Chrzanowska-Lightowlers Zofia, Safro Mark

Abstract excerpt

Various pathogenic variants in both mitochondrial tRNAPhe and Phenylalanyl-tRNA synthetase mitochondrial protein coding gene (FARS2) gene encoding for the human mitochondrial PheRS have been identified and associated with neurological and/or muscle-related pathologies. An important Guanine-34 (G34)A anticodon mutation associated with myoclonic epilepsy with ragged red fibers (MERRF) syndrome has been reported in...

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Identifiers

PMID: 32115907
DOI: 10.1111/febs.15268
PMCID: PMC7540514

Genes

FARS2

Variants

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