Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. - Test2 - elhamkhani - TriplyDB

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

http://www.wikidata.org/entity/Q36719089

about

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease Mitochondrial cytochrome c oxidase deficiency Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease Mitochondrial disease in childhood: nuclear encoded Mitochondrial genetics Dual mode action of mangiferin in mouse liver under high fat diet Historical perspective on mitochondrial medicine Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells Adult-onset leukodystrophies from respiratory chain disorders: do they exist?EFNS guidelines on the molecular diagnosis of mitochondrial disorders.Tissue- and Condition-Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease.Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core.Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Polymorphisms in the mitochondrial oxidative phosphorylation chain genes as prognostic markers for colorectal cancer.NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.Megakaryocytic differentiation of K562 cells induced by PMA reduced the activity of respiratory chain complex IV Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene.Females with a mutation in a nuclear-encoded mitochondrial protein pay a higher cost of survival than do males in Drosophila.Upregulation of cytochrome c oxidase subunit 6b1 (Cox6b1) and formation of mitochondrial supercomplexes: implication of Cox6b1 in the effect of calorie restriction.Cytochrome c oxidase dysfunction in oxidative stress.Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis Genomes of Strongylocentrotus franciscanus and Lytechinus variegatus: are there any genomic explanations for the two order of magnitude difference in the lifespan of sea urchins?hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.Pathogenic mutations of nuclear genes associated with mitochondrial disorders.The power of yeast to model diseases of the powerhouse of the cell.The genetics and pathology of mitochondrial disease.Differential proteomic and oxidative profiles unveil dysfunctional protein import to adipocyte mitochondria in obesity-associated aging and diabetes.Assessment of Protein Binding of 5-Hydroxythalidomide Bioactivated in Humanized Mice with Human P450 3A-Chromosome or Hepatocytes by Two-Dimensional Electrophoresis/Accelerator Mass Spectrometry.The clinical maze of mitochondrial neurology Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency.Inventory control: cytochrome c oxidase assembly regulates mitochondrial translation.Pathogenesis and treatment of mitochondrial myopathies: recent advances.Transduction of human recombinant proteins into mitochondria as a protein therapeutic approach for mitochondrial disorders.Mitochondrial dysfunction in central nervous system white matter disorders.

P2860

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P2860

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

http://www.wikidata.org/entity/Q36719089

description

2008 nî lūn-bûn

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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2008年论文

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Severe infantile encephalomyop ...... bunit of cytochrome c oxidase.

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American Journal of Human Genetics

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Eman Bakhsh

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P2860

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1

Cytochrome c oxidase of mammals contains a testes-specific isoform of subunit VIb--the counterpart to testes-specific cytochrome c?

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A

Assembly of cytochrome-c oxidase in cultured human cells

Mitochondrial disorders

Transformation of yeast by lithium acetate/single-stranded carrier DNA/polyethylene glycol method

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

Mega2: data-handling for facilitating genetic linkage and association analyses.

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82

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Massimo Zeviani

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5351241

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