Mitochondrial disorders caused by mutations in respiratory chain assembly factors. - sprookjes - yvandenbroek - TriplyDB

Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

http://www.wikidata.org/entity/Q37890682

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Complex-I-ty in aging Intermembrane space proteome of yeast mitochondria.SDHAF4 promotes mitochondrial succinate dehydrogenase activity and prevents neurodegeneration.Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.Mitochondria: in sickness and in health HOODS: finding context-specific neighborhoods of proteins, chemicals and diseases A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation.Tissue- and Condition-Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease.Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Maintaining ancient organelles: mitochondrial biogenesis and maturation.miR-504 mediated down-regulation of nuclear respiratory factor 1 leads to radio-resistance in nasopharyngeal carcinoma.Protein-mediated assembly of succinate dehydrogenase and its cofactors Upstream Pathways Controlling Mitochondrial Function in Major Psychosis: A Focus on Bipolar Disorder Rapamycin doses sufficient to extend lifespan do not compromise muscle mitochondrial content or endurance.Mechanisms and physiological impact of the dual localization of mitochondrial intermembrane space proteins.Expression of yeast NDI1 rescues a Drosophila complex I assembly defect.A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation.

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Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

http://www.wikidata.org/entity/Q37890682

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

@tr

scientific article published on 15 June 2011

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

@en

Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

@nl

type

label

Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

@en

Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

@nl

prefLabel

Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

@en

Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

@nl

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J.SINY.2011.05.004

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Seminars in Fetal and Neonatal Medicine

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Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

@en

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Carlos T Moraes

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Francisca Diaz

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Heike Kotarsky

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Vineta Fellman

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P2860

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

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

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

CIA30 complex I assembly factor: a candidate for human complex I deficiency?

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

C6ORF66 is an assembly factor of mitochondrial complex I

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

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197-204

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scholarly article

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10.1016/J.SINY.2011.05.004

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4

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2011-06-15T00:00:00Z

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21680271

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