NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. - Wikidata - wikimedia - TriplyDB

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

http://www.wikidata.org/entity/Q42006548

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Decoding Warburg's hypothesis: tumor-related mutations in the mitochondrial respiratory chain Mitochondrial genetics NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I Accessory subunits are integral for assembly and function of human mitochondrial complex I.Mitochondrial proteome remodeling in ischemic heart failure MicroRNA-1825 induces proliferation of adult cardiomyocytes and promotes cardiac regeneration post ischemic injury.The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.The genetics of Leigh syndrome and its implications for clinical practice and risk management Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Epigenetic profiling of human brain differential DNA methylation networks in schizophrenia.PPARα modulates gene expression profiles of mitochondrial energy metabolism in oral tumorigenesis Assembly factors for the membrane arm of human complex I.The genetics and pathology of mitochondrial disease.3, 4-dihydroxyl-phenyl lactic acid restores NADH dehydrogenase 1 α subunit 10 to ameliorate cardiac reperfusion injury.Accessory subunits of mitochondrial complex I.Essential regions in the membrane domain of bacterial complex I (NDH-1): the machinery for proton translocation.Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency.Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles.Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.Clinical, pathological, and neuroimaging analyses of two cases of Leigh syndrome in a Chinese family.Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.The molecular evolutionary dynamics of oxidative phosphorylation (OXPHOS) genes in Hymenoptera.In vivo chlorophyll fluorescence screening allows the isolation of a Chlamydomonas mutant defective for NDUFAF3, an assembly factor involved in mitochondrial complex I assembly.Human Dendritic Cell Subsets Undergo Distinct Metabolic Reprogramming for Immune Response

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NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

http://www.wikidata.org/entity/Q42006548

description

2010 nî lūn-bûn

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

@zh-sg

2010年學術文章

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2010年學術文章

@zh

2010年學術文章

@zh-hant

name

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

@en

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

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type

label

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

@en

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

@nl

prefLabel

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

@en

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

@nl

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European Journal of Human Genetics

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NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

@en

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Ellen W H Lenssen

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

Francjan J van Spronsen

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Jan A M Smeitink

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Leo G Nijtmans

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Saskia J G Hoefs

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P2860

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

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

C6ORF66 is an assembly factor of mitochondrial complex I

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.

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

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

Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits

A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

A mitochondrial protein compendium elucidates complex I disease biology

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

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270-274

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10.1038/EJHG.2010.204

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19

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Richard J Rodenburg

Lambert P van den Heuvel

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2010-12-08T00:00:00Z

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