NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. - Wikidata - awgldk - TriplyDB

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

http://www.wikidata.org/entity/Q34349348

about

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2 Mitochondrial cytochrome c oxidase deficiency The architecture of respiratory supercomplexes Tissue- and Condition-Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease.Genome-Wide Profiling of miRNA and mRNA Expression in Alzheimer's Disease The genetics of Leigh syndrome and its implications for clinical practice and risk management Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.The genetics and pathology of mitochondrial disease.A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.Leigh syndrome: One disorder, more than 75 monogenic causes.Mitochondrial disease and endocrine dysfunction.Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.Single cell transcriptome analysis of mouse carotid body glomus cells.Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.Lessons from single-cell transcriptome analysis of oxygen-sensing cells.Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.Electron transfer from reduced cytochrome c to molecular oxygen Identification of homocysteine-suppressive mitochondrial ETC complex genes and tissue expression profile - Novel hypothesis establishment.Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes

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P2860

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

http://www.wikidata.org/entity/Q34349348

description

2013 nî lūn-bûn

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2013 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2013 թվականի հունիսին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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name

NDUFA4 mutations underlie dysf ...... to human neurological disease.

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NDUFA4 mutations underlie dysf ...... to human neurological disease.

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NDUFA4 mutations underlie dysf ...... to human neurological disease.

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type

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NDUFA4 mutations underlie dysf ...... to human neurological disease.

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NDUFA4 mutations underlie dysf ...... to human neurological disease.

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NDUFA4 mutations underlie dysf ...... to human neurological disease.

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NDUFA4 mutations underlie dysf ...... to human neurological disease.

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NDUFA4 mutations underlie dysf ...... to human neurological disease.

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NDUFA4 mutations underlie dysf ...... to human neurological disease.

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J.CELREP.2013.05.005

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NDUFA4 mutations underlie dysf ...... to human neurological disease.

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A Reghan Foley

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Anna Sailer

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Cathy E Woodward

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Francesco Muntoni

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Henry Houlden

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Iain Hargreaves

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James M Polke

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Jim Stalker

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Mary G Sweeney

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Matthew E Hurles

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P2860

NDUFA4 is a subunit of complex IV of the mammalian electron transport chain

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

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

Fast and accurate short read alignment with Burrows-Wheeler transform

A mitochondrial protein compendium elucidates complex I disease biology

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

The Sequence Alignment/Map format and SAMtools

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

A framework for variation discovery and genotyping using next-generation DNA sequencing data

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1795-1805

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scholarly article

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10.1016/J.CELREP.2013.05.005

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6

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3

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Jan-Willem Taanman

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2013-06-06T00:00:00Z

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