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Arginyl-tRNA synthetase 2, mitochondrial

PCH6, Arginine-tRNA Ligase, RARS2
The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: Sen54, AGE, CAN, HAD, CsF
Papers on PCH6
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Taylor et al., Cambridge, United Kingdom. In J Neuropathol Exp Neurol, Jul 2015
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephalopathy pontocerebellar hypoplasia type 6 (PCH6).
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
del Gaudio et al., Chicago, United States. In J Hum Genet, Jul 2015
Gene expression and functional studies demonstrated that the c.-2A>G sequence change directly leads to a reduced RARS2 messenger RNA expression in the patients by decreasing RARS2 promoter activity, thus providing evidence that mutations in the RARS2 promoter are likely to represent a new causal mechanism of PCH6.
Neuropathologic features of pontocerebellar hypoplasia type 6.
FORGE Canada Consortium et al., Montréal, Canada. In J Neuropathol Exp Neurol, 2014
Genetic analysis by whole-exome sequencing demonstrated compound heterozygous mutations in the mitochondrial arginyl transfer RNA synthetase gene RARS2, indicating that the children had pontocerebellar hypoplasia type 6.
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Baas et al., Amsterdam, Netherlands. In Orphanet J Rare Dis, 2013
Recently, mutations in the exosome component 3 gene (EXOSC3) have been identified in approximately half of the patients with PCH subtype 1. METHODS: We selected a cohort of 99 PCH patients (90 families) tested negative for mutations in the TSEN genes, RARS2, VRK1 and CASK.
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
McShane et al., Oxford, United Kingdom. In Arch Dis Child, 2013
We report two siblings with the RARS2 mutation who displayed typical clinical features of PCH6, but who had distinct neuroimaging features.
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Bertini et al., Pisa, Italy. In J Inherit Metab Dis, 2013
Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset encephalopathy with signs of oxidative phosphorylation defects classified as pontocerebellar hypoplasia 6.
Mitochondrial disease and epilepsy.
Rahman, London, United Kingdom. In Dev Med Child Neurol, 2012
The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10) biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations.
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.
Grunewald et al., London, United Kingdom. In J Inherit Metab Dis, 2012
mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2, may have a role in pontocerebellar hypoplasia type 6 [case report]
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.
Rossi et al., Genova, Italy. In J Inherit Metab Dis, 2011
In particular, when PCH is combined with severe supratentorial white matter involvement and cerebral atrophy, mutations in the mitochondrial arginyl-tRNA synthethase (RARS2) gene causing PCH6 are possible.
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
Baas et al., Amsterdam, Netherlands. In Hum Mol Genet, 2011
To determine whether a common disease pathway exists between TSEN54 and other PCH-related genes, we also monitored the effects of mitochondrial arginyl-tRNA synthetase (rars2; PCH1 and PCH6) knockdown in zebrafish.
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Poll-The et al., Amsterdam, Netherlands. In Brain, 2011
Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6.
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Baas et al., Amsterdam, Netherlands. In Orphanet J Rare Dis, 2010
Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6.
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Brown et al., Exeter, United Kingdom. In Am J Med Genet A, 2010
Despite the absence of respiratory chain defects, the phenotype was felt to be consistent with PCH6 and indeed two novel pathogenic RARS2 mutations were identified.
Identification of three classes of heteroaromatic compounds with activity against intracellular Trypanosoma cruzi by chemical library screening.
Rodriguez et al., New York City, United States. In Plos Negl Trop Dis, 2008
cruzi activity of molecules chemically related to the three library hits allowed the selection of two compounds with IC(50) values of 2 nM (PCH6 and CX2).
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.
Elpeleg et al., Jerusalem, Israel. In Am J Hum Genet, 2007
This resulted in the identification of an intronic mutation in RARS2, the gene encoding mitochondrial arginine-transfer RNA (tRNA) synthetase.
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