Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
about
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionModification of the wobble uridine in bacterial and mitochondrial tRNAs reading NNA/NNG triplets of 2-codon boxesThe human mitochondrial transcriptome and the RNA-binding proteins that regulate its expressionMTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAA guide to diagnosis and treatment of Leigh syndrome.dATF4 regulation of mitochondrial folate-mediated one-carbon metabolism is neuroprotective.Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTPathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferaseTargeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.Spectrum of combined respiratory chain defects.Mitochondrial transcript maturation and its disordersMechanism of protein biosynthesis in mammalian mitochondria.Reversal of Cytosolic One-Carbon Flux Compensates for Loss of the Mitochondrial Folate PathwayOn the future of genetic risk assessment.Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation MachineriesChallenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesTargeted exome sequencing of suspected mitochondrial disorders.Inhibition of human mitochondrial peptide deformylase causes apoptosis in c-myc-overexpressing hematopoietic cancers.Next-generation sequencing for mitochondrial disordersMitochondria: impaired mitochondrial translation in human diseaseMitochondrial protein synthesis: figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation.Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.Efficient Boar Semen Production and Genetic Contribution: The Impact of Low-Dose Artificial Insemination on Fertility.Leigh syndrome: One disorder, more than 75 monogenic causes.Chemotherapy-induced antitumor immunity requires formyl peptide receptor 1.The process of mammalian mitochondrial protein synthesis.One-Carbon Metabolism in Health and Disease.Lack of formylated methionyl-tRNA has pleiotropic effects on Bacillus subtilis.Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders.The gene fmt, encoding tRNAfMet-formyl transferase, is essential for normal growth of M. bovis, but not for viability.Mitochondrial translation requires folate-dependent tRNA methylation.Mice deficient in the Shmt2 gene have mitochondrial respiration defects and are embryonic lethal.Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.Mitochondrial diseases: the contribution of organelle stress responses to pathology.The mitochondrial epitranscriptome: the roles of RNA modifications in mitochondrial translation and human disease.
P2860
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P2860
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in MTFMT underlie a ...... ired mitochondrial translation
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Mutations in MTFMT underlie a ...... ired mitochondrial translation
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Mutations in MTFMT underlie a ...... ired mitochondrial translation
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Mutations in MTFMT underlie a ...... ired mitochondrial translation
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Mutations in MTFMT underlie a ...... ired mitochondrial translation
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Mutations in MTFMT underlie a ...... ired mitochondrial translation
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Mutations in MTFMT underlie a ...... ired mitochondrial translation
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Mutations in MTFMT underlie a ...... ired mitochondrial translation
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Mutations in MTFMT underlie a ...... ired mitochondrial translation
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P2093
P2860
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P3181
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Mutations in MTFMT underlie a ...... ired mitochondrial translation
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P2093
Caroline Köhrer
Casey A Belcher-Timme
Elena J Tucker
Jacob D Jaffe
Jinal Patel
Jonathon M Silberstein
Olga A Goldberger
Sarah E Calvo
Steven A Carr
Uttam L RajBhandary
P2860
P304
P3181
P356
10.1016/J.CMET.2011.07.010
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P577
2011-09-01T00:00:00Z