Identification of a Novel Variant in <i>EARS2</i> Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

Identification of a Novel Variant in <i>EARS2</i> Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

The <i>EARS2</i> 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). Pathogeni...

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Bibliographic Details
Main Authors: Sofia Barbosa-Gouveia, Emiliano González-Vioque, Álvaro Hermida, María Unceta Suarez, María Jesús Martínez-González, Filipa Borges, Liesbeth Wintjes, Antonia Kappen, Richard Rodenburg, María-Luz Couce
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Genes
Subjects:
mitochondrial disorders
aminoacyl-tRNA synthetases
<i>EARS2</i>
LTBL
Online Access:https://www.mdpi.com/2073-4425/11/9/1028

Internet

https://www.mdpi.com/2073-4425/11/9/1028

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