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Article

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.

Genes - 2 Sept 2020

Barbosa-Gouveia Sofia, González-Vioque Emiliano, Hermida Álvaro, Suarez María Unceta, Martínez-González María Jesús, Borges Filipa, Wintjes Liesbeth, Kappen Antonia, Rodenburg Richard, Couce María-Luz

Abstract excerpt

The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu). Pathogenic EARS2 variants have been associated with a rare mitochondrial disorder known as leukoencephalopathy with thalamus and brainstem...

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Identifiers

PMID: 32887222
DOI: 10.3390/genes11091028
PMCID: PMC7563109

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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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Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.PMID 32887222Read ↗

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