Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency - Test2 - elhamkhani - TriplyDB

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

http://www.wikidata.org/entity/Q34388122

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Mapping gene associations in human mitochondria using clinical disease phenotypes Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1 NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency Respiratory complex III is required to maintain complex I in mammalian mitochondria Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1 A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16 Human mitochondrial complex I in health and disease Mitochondria and dystonia: the movement disorder connection?Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease Mitochondria Survey of human mitochondrial diseases using new genomic/proteomic tools A power law global error model for the identification of differentially expressed genes in microarray data MitoP2: the mitochondrial proteome database--now including mouse data Mitochondrial cytochrome c oxidase deficiency Mitochondrial disease in childhood: nuclear encoded Mitochondrial disorders: challenges in diagnosis & treatment Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast.Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family Shy1 couples Cox1 translational regulation to cytochrome c oxidase assembly.Mss51p and Cox14p jointly regulate mitochondrial Cox1p expression in Saccharomyces cerevisiae.Coa3 and Cox14 are essential for negative feedback regulation of COX1 translation in mitochondria.Dual functions of Mss51 couple synthesis of Cox1 to assembly of cytochrome c oxidase in Saccharomyces cerevisiae mitochondria SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy Respiratory chain complex I deficiency Cytochrome c oxidase deficiency Mutation screening in patients with isolated cytochrome c oxidase deficiency Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry A stabilizing factor for mitochondrial respiratory supercomplex assembly regulates energy metabolism in muscle Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy Historical perspective on mitochondrial medicine Revolution in mitochondrial medicine.Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy.

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

http://www.wikidata.org/entity/Q34388122

description

1998 nî lūn-bûn

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1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1998年の論文

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1998年学术文章

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1998年学术文章

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1998年学术文章

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1998年学术文章

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1998年学术文章

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1998年學術文章

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name

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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American Journal of Human Genetics

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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B Franco

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C Galimberti

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G Uziel

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Protein measurement with the Folin phenol reagent

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

Strategies for multilocus linkage analysis in humans

Sequence and organization of the human mitochondrial genome

SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration.

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

Sequence and gene organization of mouse mitochondrial DNA

A knowledge base for predicting protein localization sites in eukaryotic cells

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1609-1621

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10.1086/302150

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Thomas Meitinger

Valeria Tiranti

Rosalba Carrozzo

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