Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
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Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the NervesTRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesA Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesRecessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Mtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver InjuryDeficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.Spectrum of combined respiratory chain defects.Mitochondrial transcript maturation and its disordersDefective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate Carrier.Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica).TRNT1 deficiency: clinical, biochemical and molecular genetic featuresNuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.Mutations causing mitochondrial disease: What is new and what challenges remain?microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases.Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses.Invited review: MnmE, a GTPase that drives a complex tRNA modification reaction.Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.Dealing with an Unconventional Genetic Code in Mitochondria: The Biogenesis and Pathogenic Defects of the 5-Formylcytosine Modification in Mitochondrial tRNAMet.The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylationA hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function.Mitochondrial C4375T mutation might be a molecular risk factor in a maternal Chinese hypertensive family under haplotype C.The genotypic and phenotypic spectrum of MTO1 deficiency.Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease.Mitochondrial translation requires folate-dependent tRNA methylation.Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis.Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.The mitochondrial epitranscriptome: the roles of RNA modifications in mitochondrial translation and human disease.Neonatal encephalocardiomyopathy caused by mutations in VARS2.Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.CO2-sensitive tRNA modification associated with human mitochondrial disease.Integration of miRNA and mRNA Co-Expression Reveals Potential Regulatory Roles of miRNAs in Developmental and Immunological Processes in Calf Ileum during Early Growth
P2860
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P2860
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutations in GTPBP3 cause a mi ...... c acidosis, and encephalopathy
@ast
Mutations in GTPBP3 cause a mi ...... c acidosis, and encephalopathy
@en
Mutations in GTPBP3 cause a mi ...... c acidosis, and encephalopathy
@nl
type
label
Mutations in GTPBP3 cause a mi ...... c acidosis, and encephalopathy
@ast
Mutations in GTPBP3 cause a mi ...... c acidosis, and encephalopathy
@en
Mutations in GTPBP3 cause a mi ...... c acidosis, and encephalopathy
@nl
prefLabel
Mutations in GTPBP3 cause a mi ...... c acidosis, and encephalopathy
@ast
Mutations in GTPBP3 cause a mi ...... c acidosis, and encephalopathy
@en
Mutations in GTPBP3 cause a mi ...... c acidosis, and encephalopathy
@nl
P2093
P2860
P50
P1476
Mutations in GTPBP3 cause a mi ...... c acidosis, and encephalopathy
@en
P2093
Abraham Lorber
Akira Ohtake
Arnaud Vanlander
Asaad Khoury
Björn Menten
Bénédict Mousson de Camaret
Dominique Chretien
Ellen Crushell
Ewen W Sommerville
François Feillet
P2860
P304
P356
10.1016/J.AJHG.2014.10.017
P407
P50
P577
2014-11-26T00:00:00Z