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TRNA 5-methylaminomethyl-2-thiouridylate methyltransferase

TRMU, MTO2, Mtu1, mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase
This gene is a member of the trmU family. It encodes a mitochondria-specific tRNA-modifying enzyme that is required for the 2-thio modification of 5-taurinomethyl-2-thiouridine tRNA-Lys on the wobble position of the anticodon. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: mto1, CAN, AGE, ACID, HAD
Papers on TRMU
The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.
Armengod et al., Valencia, Spain. In Hum Mol Genet, 2015
We demonstrated that oxidative stress mediates an NFkB-dependent induction of microRNA-9/9*, which acts as a post-transcriptional negative regulator of the mt-tRNA-modification enzymes GTPBP3, MTO1 and TRMU.
Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.
Xie et al., Changsha, China. In Genet Test Mol Biomarkers, 2015
Subsequencing for the coding region of the GJB2 gene in the samples without the GJB2 hotspot mutations as well as subsequencing for the exon 1 of the TRMU gene in those samples with the mtDNA hotspot mutations was performed by Sanger sequencing.
Mto2 multisite phosphorylation inactivates non-spindle microtubule nucleation complexes during mitosis.
Sawin et al., Edinburgh, United Kingdom. In Nat Commun, 2014
Here we show that the Mto1/2 complex disassembles during mitosis, coincident with hyperphosphorylation of Mto2 protein.
MTO1 worked as a modifier in the aminoglycosides sensitivity of yeast carrying a mitochondrial 15S rRNA C1477G mutation.
Yan et al., Hangzhou, China. In Plos One, 2014
MTO1, together with MSS1 and MTO2, is a gene involved in the pathway of encoding a mitochondria-specific RNA-modifying enzyme related to the post-transcriptional modification of mitochondrial tRNAs.
Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?
Coman et al., Brisbane, Australia. In Jimd Rep, 2014
Recently pathogenic mutations in tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) gene (OMIM 610230) have been demonstrated to cause transient infantile liver failure (OMIM 613070).
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Impact
Chinnery et al., Newcastle upon Tyne, United Kingdom. In Jama, 2014
However, atypical clinical features were present in some patients, including normal liver function and Leigh syndrome (subacute necrotizing encephalomyelopathy) seen in association with TRMU mutations and no cardiomyopathy with founder SCO2 mutations.
The effect of small molecules on nuclear-encoded translation diseases.
Saada et al., Jerusalem, Israel. In Biochimie, 2014
We evaluated the effect of seven small molecules with reported therapeutic potential in fibroblasts of four patients with combined respiratory complex disorders, each harboring a known mutation in a different nuclear-encoded component of the mitochondrial translation machinery: EFTs, GFM1, MRPS22 and TRMU.
Dynamics of cell shape inheritance in fission yeast.
Carazo-Salas et al., Cambridge, United Kingdom. In Plos One, 2013
Finally, we find that one of those pathways corresponds to the swc2-swr1-vps71 SWR1/SRCAP chromatin remodelling complex, which acts additively to the known mal3-tip1-mto1-mto2 microtubule and tea1-tea2-tea4-pom1 polarity machineries.
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.
Horvath et al., Newcastle upon Tyne, United Kingdom. In Hum Mol Genet, 2013
However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency, stand out by showing spontaneous recovery, and provide the key to treatments of potential broader relevance.
Nuclear factors: roles related to mitochondrial deafness.
Review
Yang et al., Hangzhou, China. In Gene, 2013
TFB1M, MTO1, GTPBP3, and TRMU are modifier genes.
Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C > T mutation in the mitochondrial 12S rRNA gene in two Chinese families.
Cao et al., Nanjing, China. In Int J Audiol, 2013
DESIGN: Clinical evaluations, sequence analysis of mitochondrial DNA (mtDNA) as well as two nuclear genes TRMU and MTO1 encoding mitochondrial proteins.
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.
Slama et al., Le Kremlin-Bicêtre, France. In Jimd Rep, 2012
More recently, mutations in TRMU gene encoding the mitochondrial tRNA-specific 2-thiouridylase were found in infantile hepatopathy related to mitochondrial translation defect.
Nuclear modifier MTO2 modulates the aminoglycoside-sensitivity of mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.
Yan et al., Hangzhou, China. In Plos One, 2012
Here we report that the deletion of the nuclear modifier gene MTO2 suppressed the aminoglycoside-sensitivity of mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
Shoubridge et al., Montréal, Canada. In Hum Mutat, 2012
An additional, heterozygous mutation was detected in TRMU/MTU1, a gene encoding the mitochondrial 2-thiouridylase.
The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.
GeneRIF
Shoubridge et al., Montréal, Canada. In Hum Mol Genet, 2012
MTU1 is not required for mitochondrial translation.
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
Poulton et al., Oxford, United Kingdom. In J Med Genet, 2011
Furthermore, in two families pathogenic mutations were also found in the nuclear TRMU gene which has not previously been associated with this phenotype.
Acute infantile liver failure due to mutations in the TRMU gene.
GeneRIF
Elpeleg et al., Jerusalem, Israel. In Am J Hum Genet, 2009
There is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure.
Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness.
GeneRIF
López de Munain et al., San Sebastián, Spain. In Audiol Neurootol, 2007
TRMU G28T single nucleotide polymorphism is present in 1 of the studied families for neurosensory nonsyndromic deafness
Deletion of the MTO2 gene related to tRNA modification causes a failure in mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae.
GeneRIF
Guan et al., Cincinnati, United States. In Febs Lett, 2007
These data strongly indicate that unmodified tRNA caused by the deletion of MTO2 caused the instability of mitochondrial tRNAs and mRNAs and impairment of aminoacylation of tRNAs.
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
GeneRIF
Fischel-Ghodsian et al., Cincinnati, United States. In Am J Hum Genet, 2006
The mutated TRMU, related to transfer RNA modification, acting as a modifier factor modulates the phenotypic manifestation of deafness-associated 12S rRNA mutations.
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