Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. - Wikidata - wikimedia - TriplyDB

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

http://www.wikidata.org/entity/Q34064462

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Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex Mitochondrial genetics Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases Mitochondrial viability in mouse and human postmortem brain The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families A forward genetic screen identifies mutants deficient for mitochondrial complex I assembly in Chlamydomonas reinhardtii.An update on complex I assembly: the assembly of players.Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and development Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency Mitochondrial disorders caused by mutations in respiratory chain assembly factors.The molecular basis of human complex I deficiency.A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.Mitochondrial function in human brains is affected by pre- and post mortem factors.High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7 Human diseases associated with defects in assembly of OXPHOS complexes Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

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P2860

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

http://www.wikidata.org/entity/Q34064462

description

2009 nî lūn-bûn

@nan

2009 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հունիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

@ast

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

@en

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

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type

label

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

@en

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

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prefLabel

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

@ast

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

@en

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

@nl

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JMG.2009.067553

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Journal of Medical Genetics

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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

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P2093

A T M Hendrickx

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B J C van den Bosch

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C M H Calis

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H Akbari

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H J M Smeets

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H R Scholte

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I F M de Coo

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K Schoonderwoerd

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L E A de Wit

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M Frentzen

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P2860

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

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

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

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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507-512

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10.1136/JMG.2009.067553

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