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Leucyl-tRNA synthetase 2, mitochondrial

Leucine-tRNA Ligase, LARS2, KIAA0028
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: POLYMERASE, AGE, ClpP, ACID, HAD
Papers on Leucine-tRNA Ligase
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
Asselta et al., Milano, Italy. In J Hum Genet, Jan 2016
Recently, mutations in five genes (HSD17B4, HARS2, CLPP, LARS2 and C10ORF2) were found to be responsible for Perrault syndrome, although they do not account for all cases of this genetically heterogeneous condition.
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
Christodoulou et al., Westmead, Australia. In Jimd Rep, Dec 2015
LARS2 encodes the mitochondrial leucyl-tRNA synthetase, which attaches leucine to its cognate tRNA.
Extramedullary relapse of multiple myeloma defined as the highest risk group based on deregulated gene expression data.
Hajek et al., Brno, Czech Republic. In Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub, Jun 2015
Of these, 6 showed significant changes as described by the UAMS group (ASPM, SLC19A1, NADK, TBRG4, TMPO and LARS2).
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
Al-Aama et al., Jiddah, Saudi Arabia. In J Neurol Sci, 2014
Mutations in five genes, HSD17B4, HARS2, CLPP, LARS2, and C10orf2, have been reported in five subtypes of PRLTS.
Perrault Syndrome
Conway et al., Seattle, United States. In Unknown Journal, 2014
The diagnosis is confirmed by the presence of biallelic pathogenic variants in one of four genes (HARS2, HSD17B4, LARS2, or CLPP); to date, however, biallelic pathogenic variants in one of these four genes have been identified in individuals in seven families only.
Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation.
Nuoffer et al., Bern, Switzerland. In Amino Acids, 2014
Amino acid starvation also increased the mitochondrially encoded leucine tRNA (tRNA(Leu(CUN))) and the mRNA for the mitochondrial leucyl-tRNA synthetase (LARS2).
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
Levy-Lahad et al., Seattle, United States. In Am J Hum Genet, 2013
In two families affected by POF accompanied by hearing loss (together, these symptoms compose Perrault syndrome), exome sequencing revealed mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase: homozygous c.1565C>A (p.Thr522Asn) in a consanguineous Palestinian family and compound heterozygous c.1077delT and c.1886C>T (p.Thr629Met) in a nonconsanguineous Slovenian family.
Promoter methylation of cyclin A1 is associated with human papillomavirus 16 induced head and neck squamous cell carcinoma independently of p53 mutation.
Rudack et al., M√ľnster, Germany. In Mol Carcinog, 2011
The promoter methylation status of 12 genes (TIMP3, CDH1, CDKN2A, DAPK1, transcription factor 21 (TCF21), CD44, MLH1, MGMT, RASSF1, cyclin A1 (CCNA1), LARS2, and CEBPA) was evaluated by methylation-specific polymerase chain reaction in 55 primary HNSCC and 31 controls.
Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
Guan et al., Cincinnati, United States. In Mol Cell Biol, 2010
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).
Genetic association analysis of LARS2 with type 2 diabetes.
't Hart et al., Leiden, Netherlands. In Diabetologia, 2010
No evidence to support previous data indicating a role in type 2 diabetes susceptibility in humans with LARS2 single nucleotide polymorphisms
Inactivation of LARS2, located at the commonly deleted region 3p21.3, by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma.
Ren et al., Changsha, China. In Acta Biochim Biophys Sin (shanghai), 2009
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
Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
King et al., Philadelphia, United States. In Rna, 2008
There was investigated whether overexpression of human mitochondrial LeuRS suppressed translation and respiratory chain defects associated with the pathogenic A3243G mutation in human cells.
Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene.
Maassen et al., Leiden, Netherlands. In Diabetes, 2005
In this study, we provide evidence that the LARS2 gene may represent a novel type 2 diabetes susceptibility gene.
Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia.
Kato et al., Saitama, Japan. In Biol Psychiatry, 2005
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.
Comparative human/murine sequence analysis of the common eliminated region 1 from human 3p21.3.
Imreh et al., Stockholm, Sweden. In Mamm Genome, 2002
We further identified and characterized five novel orthologous mouse genes (Kiaa0028, Xtrp3s1, Fyco1, Tmem7, and Lrrc2).
A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3.
Dumanski et al., Stockholm, Sweden. In Hum Genet, 1999
Using the sequence of two overlapping PACs from C3CER1, we localized the human KIAA0028 cDNA, encoding the precursor of mitochondrial leucyl-tRNA synthetase.
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