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Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
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EN
Article de revue
Este ítem está publicado en
Clinical Genetics. 2023-03-01, vol. 103, n° 3, p. 358-363
Resumen en inglés
Aminoacyl-tRNA synthetases are enzymes that ensure accurate protein synthesis. Variants of the dual-functional cytoplasmic human glutamyl-prolyl-tRNA synthetase, EPRS1, have been associated with leukodystrophy, diabetes ...Leer más >
Palabras clave
Aminoacylation
Aminoacyl-tRNA synthetase
EPRS1
Exome sequencing
Integrated stress response
Leukodystrophy
Psychomotor developmental delay
tRNA