LARS2 Antibody

1. IARS2 knockdown inhibits proliferation, suppresses colony formation, and causes cell cycle arrest in AGS cells. PMID: 29071539
2. ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4, LARS2, CLPP and C10orf2 PMID: 26970254
3. This represents the first independent replication of the involvement of LARS2 mutations in Perrault syndrome, contributing valuable information for the further understanding of this disease PMID: 26657938
4. analysis of the CP1 domain in human mitochondrial leucyl-tRNA synthetase PMID: 26272616
5. Leucyl tRNA synthetase is able to partially rescue defects caused by mutations in non-cognate itochondrial-tRNAs. PMID: 24413189
6. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. PMID: 23541342
7. No evidence to support previous data indicating a role in type 2 diabetes susceptibility in humans with LARS2 single nucleotide polymorphisms PMID: 19847392
8. The alteration of aminoacylation tRNA(Leu(UUR)) caused by the A3243G mutation led to mitochondrial translational defects and thereby reduced the aminoacylated efficiencies of tRNA(Leu(UUR)) as well as tRNA(Ala) and tRNA(Met). PMID: 20194621
9. Upregulation of LARS2 is a hallmark of 324A>G mutation. The accumulation of 3243A>G mutation in the brain may have a pathophysiologic role in bipolar disorder and schizophrenia. PMID: 15737668
10. In this study, we provide evidence that the LARS2 gene may represent a novel type 2 diabetes susceptibility gene. PMID: 15919814
11. There was investigated whether overexpression of human mitochondrial LeuRS suppressed translation and respiratory chain defects associated with the pathogenic A3243G mutation in human cells. PMID: 18796578
12. data indicate that inactivation of LARS2 by both genetic and epigenetic mechanisms may be a common and important event in the carcinogenesis of nasopharyngeal carcinoma PMID: 19129950

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HGNC: 17095

OMIM: 604544

KEGG: hsa:23395

STRING: 9606.ENSP00000265537

UniGene: Hs.526975