Disorders of mitochondrial protein synthesis. - Wikidata - awgldk - TriplyDB

Disorders of mitochondrial protein synthesis.

Disorders of mitochondrial protein synthesis.

http://www.wikidata.org/entity/Q35203201

about

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs Mitochondrial DNA mutations in human disease Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1 Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.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 Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations.Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts.An Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises development and fitness in Drosophila.HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG.Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.Mitochondrial tRNA 3' end metabolism and human disease.A Drosophila model for mito-nuclear diseases generated by an incompatible interaction between tRNA and tRNA synthetase.Unique features of animal mitochondrial translation systems. The non-universal genetic code, unusual features of the translational apparatus and their relevance to human mitochondrial diseases Mitochondrial ribosome assembly in health and disease Autophagy is induced through the ROS-TP53-DRAM1 pathway in response to mitochondrial protein synthesis inhibition.Antibiotics and the ribosome.The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.Probing the intermediacy of covalent RNA enzyme complexes in RNA modification enzymes.Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.A single mammalian mitochondrial translation initiation factor functionally replaces two bacterial factors Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness Molecular diagnostics and mitochondrial dysfunction: a future perspective.Pleiotropic effects of a mitochondrial-nuclear incompatibility depend upon the accelerating effect of temperature in Drosophila.A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease.Energy matters: mitochondrial proteomics for biomedicine.Mechanisms of mitochondrial diseases.Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.Isolated cytochrome c oxidase deficiency as a cause of MELAS Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript.Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures.Pathology-related mutation A7526G (A9G) helps in the understanding of the 3D structural core of human mitochondrial tRNA(Asp).Length variation in the mouse mitochondrial tRNA(Arg) DHU loop size promotes oxidative phosphorylation functional differences.Prediction of pathogenic mutations in mitochondrially encoded human tRNAs.Preferences of AAA/AAG codon recognition by modified nucleosides, τm5s2U34 and t6A37 present in tRNALys.Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases.

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P2860

Disorders of mitochondrial protein synthesis.

http://www.wikidata.org/entity/Q35203201

description

2003 nî lūn-bûn

@nan

2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Disorders of mitochondrial protein synthesis.

@ast

Disorders of mitochondrial protein synthesis.

@en

type

label

Disorders of mitochondrial protein synthesis.

@ast

Disorders of mitochondrial protein synthesis.

@en

prefLabel

Disorders of mitochondrial protein synthesis.

@ast

Disorders of mitochondrial protein synthesis.

@en

P1433

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P1433

Human Molecular Genetics

P1476

Disorders of mitochondrial protein synthesis.

@en

P2093

Howard T Jacobs

http://www.w3.org/2001/XMLSchema#string

P2860

A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation

MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae.

Interactions among COX1, COX2, and COX3 mRNA-specific translational activator proteins on the inner surface of the mitochondrial inner membrane of Saccharomyces cerevisiae.

Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation

Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease

Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

P304

R293-301

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P31

scholarly article

P356

10.1093/HMG/DDG285

http://www.w3.org/2001/XMLSchema#string

P478

12 Spec No 2

http://www.w3.org/2001/XMLSchema#string

P577

2003-08-19T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

10604924

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P698

12928485

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