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LARS2 encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Zusätzlich bieten wir Ihnen LARS2 Proteine (1) und viele weitere Produktgruppen zu diesem Protein an.
Showing 10 out of 36 products:
Human Polyclonal LARS2 Primary Antibody für ICC, IF - ABIN4330339
Perli, Giordano, Pisano, Montanari, Campese, Reyes, Ghezzi, Nasca, Tuppen, Orlandi, Di Micco, Poser, Taylor, Colotti, Francisci, Morea, Frontali, Zeviani, dAmati: The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells. in EMBO molecular medicine 2014
ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4 (zeige HSD17B4 Antikörper), LARS2, CLPP (zeige CLPP Antikörper) and C10orf2 (zeige C10ORF2 Antikörper)
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
analysis of the CP1 domain in human mitochondrial leucyl-tRNA synthetase
Leucyl tRNA synthetase is able to partially rescue defects caused by mutations in non-cognate itochondrial-tRNAs.
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
No evidence to support previous data indicating a role in type 2 diabetes susceptibility in humans with LARS2 single nucleotide polymorphisms
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.
In this study, we provide evidence that the LARS2 gene may represent a novel type 2 diabetes susceptibility gene.
There was investigated whether overexpression of human mitochondrial LeuRS suppressed translation and respiratory chain defects associated with the pathogenic A3243G mutation in human cells.
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
This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid.
leucyl-tRNA synthetase 2, mitochondrial
, probable leucyl-tRNA synthetase, mitochondrial
, Probable leucyl-tRNA synthetase, mitochondrial
, leucine--tRNA ligase
, probable leucine--tRNA ligase, mitochondrial
, probable leucyl-tRNA synthetase, mitochondrial-like
, leucine tRNA ligase 2, mitochondrial
, leucine tRNA ligase 2, mitocondrial
, leucine translase
, leucyl-tRNA synthetase, mitochondrial