TY  - GEN 
AU  - Barbosa Gouveia, Sofía
AU  - González Vioque, Emiliano
AU  - Hermida Ameijeiras, Alvaro
AU  - Suarez, M. U.
AU  - Martinez-Gonzalez, M. J.
AU  - Borges ., Filipa
AU  - Wintjes, L.
AU  - Kappen, A.
AU  - Rodenburg, R.
AU  - Couce Pico,  María Luz
PY  - 2020
SN  - 2073-4425
UR  - http://hdl.handle.net/20.500.11940/16593
AB  - 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...
KW  - Adult
KW  - Brain Stem
KW  - Leukoencephalopathies
KW  - RNA
KW  - Genetic Variation
KW  - Phenotype
KW  - Glutamate-tRNA Ligase
KW  - Amino Acyl-tRNA Synthetases
KW  - Mitochondria
KW  - Humans
KW  - Fibroblasts
KW  - Oxidative Phosphorylation
KW  - Cells
KW  - Thalamus
KW  - Oxygen Consumption
KW  - Lactic Acid
TI  - Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL
DO  - 10.3390/genes11091028
KW  - CHUS
KW  - IDIS
VL  - 11
ER  -