Verdura E et al. Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence. J Med Genet. 2022;59(12):1227-133. PMID: 36041817.
Ravel JM et al. A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Hum Mutat. 2021;42(12):1601-1607. PMID: 34570399.
Musante L et al. Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 2017;38(6):621-636. PMID: 28236339.
van der Knaap MS et al. Treatment of ARS deficiencies with specific amino acids. Genet Med. 2021;23(7):1381-1385. PMID: 33731872.
Yao P et al. Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease. Ann Neurol. 2022;92(5):826-838. PMID: 36088542.
SARS1