Associated Papers
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Lin SJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34172899 (PubMed )
Supplement: NIHMS1734679-supplement-Supplementary_info_clean.docx
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.
Peluso F et al.
Bmc Medical Genomics, 2021
Retractile lysyl-tRNA synthetase-AIMP2 assembly in the human multi-aminoacyl-tRNA synthetase complex.
Hei Z et al.
The Journal of Biological Chemistry, 2019
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
Ruzzenente B et al.
Human Mutation, 2018
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
Verrigni D et al.
Clinical Genetics, 2017
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