Respiratory chain complex I deficiency - sprookjes - yvandenbroek - TriplyDB

Respiratory chain complex I deficiency

Respiratory chain complex I deficiency

http://www.wikidata.org/entity/Q28189572

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Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease GRIM-19, a cell death regulatory protein, is essential for assembly and function of mitochondrial complex I Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I Mitochondrial disease in childhood: nuclear encoded Mitochondrial disorders: challenges in diagnosis & treatment IL-15Rα deficiency in skeletal muscle alters respiratory function and the proteome of mitochondrial subpopulations independent of changes to the mitochondrial genome A Drosophila model of mitochondrial disease caused by a complex I mutation that uncouples proton pumping from electron transfer.Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans.Gene expression in a Drosophila model of mitochondrial disease.Mining yeast in silico unearths a golden nugget for mitochondrial biology The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families Introduction of an additional pathway for lactate oxidation in the treatment of lactic acidosis and mitochondrial dysfunction in Caenorhabditis elegans.A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.Identification of differently expressed genes and small molecule drugs for Tetralogy of Fallot by bioinformatics strategy.Proton pumping by NADH:ubiquinone oxidoreductase. A redox driven conformational change mechanism?Isoflurane selectively inhibits distal mitochondrial complex I in Caenorhabditis elegans Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.MicroRNAs Regulate Cellular ATP Levels by Targeting Mitochondrial Energy Metabolism Genes during C2C12 Myoblast Differentiation.Mitochondrial Respiratory Defect Causes Dysfunctional Lactate Turnover via AMP-activated Protein Kinase Activation in Human-induced Pluripotent Stem Cell-derived Hepatocytes.Mitochondrial respiratory complex I: structure, function and implication in human diseases.Computational approaches for the prediction of protein function in the mitochondrion.Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).Mitochondria and energetic depression in cell pathophysiology AIF deficiency compromises oxidative phosphorylation.Neurodevelopmental manifestations of mitochondrial disease.Mitochondria as oxidative signaling organelles in T-cell activation: physiological role and pathological implications.Mitochondrial Respiration in Human Colorectal and Breast Cancer Clinical Material Is Regulated Differently.Early complex I assembly defects result in rapid turnover of the ND1 subunit.Nuclear suppression of mitochondrial defects in cells without the ND6 subunit.Niacin metabolism and Parkinson's disease.Combined partial deficiencies of carnitine palmitoyltransferase II and mitochondrial complex I presenting as increased serum creatine kinase level.Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome.Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency

P2860

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P2860

Respiratory chain complex I deficiency

http://www.wikidata.org/entity/Q28189572

description

2001 nî lūn-bûn

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2001 թուականին հրատարակուած գիտական յօդուած

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2001 թվականին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

@zh-hk

2001年論文

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2001年論文

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2001年论文

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name

Respiratory chain complex I deficiency

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Respiratory chain complex I deficiency

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Respiratory chain complex I deficiency

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type

label

Respiratory chain complex I deficiency

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Respiratory chain complex I deficiency

@en

Respiratory chain complex I deficiency

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prefLabel

Respiratory chain complex I deficiency

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Respiratory chain complex I deficiency

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Respiratory chain complex I deficiency

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P1433

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P698

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P356

P1433

American Journal of Medical Genetics Part A

P1476

Respiratory chain complex I deficiency

@en

P2093

J A Smeitink

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

J M Trijbels

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

L P Van Den Heuvel

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

R H Triepels

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

P2860

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients

Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chain

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

P304

37-45

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P31

scholarly article

P356

10.1002/AJMG.1397

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P407

P433

1

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P478

106

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P577

2001-01-01T00:00:00Z

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P698

11579423

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