Mutation screening in patients with isolated cytochrome c oxidase deficiency - Wikidata - awgldk - TriplyDB

Mutation screening in patients with isolated cytochrome c oxidase deficiency

Mutation screening in patients with isolated cytochrome c oxidase deficiency

http://www.wikidata.org/entity/Q28204376

about

Q28160043 Q29997734

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Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease Yeast mitochondrial biogenesis: a role for the PUF RNA-binding protein Puf3p in mRNA localization Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein.Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2 Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.The role of mitochondrial DNA copy number in mammalian fertility.A functionally dominant mitochondrial DNA mutation.Mitochondriopathies.Genetics of inherited cardiomyopathies.Integrated Left Ventricular Global Transcriptome and Proteome Profiling in Human End-Stage Dilated Cardiomyopathy.Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.Mitochondrial hepatopathies: advances in genetics and pathogenesis.Liver disease in mitochondrial disorders.Copper transporters and chaperones: Their function on angiogenesis and cellular signalling.Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases SURF1 missense mutations promote a mild Leigh phenotype.Reversible infantile respiratory chain deficiency: a clinical and molecular study.Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model.Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

P2860

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P2860

Mutation screening in patients with isolated cytochrome c oxidase deficiency

http://www.wikidata.org/entity/Q28204376

description

2003 nî lūn-bûn

@nan

2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Mutation screening in patients with isolated cytochrome c oxidase deficiency

@ast

Mutation screening in patients with isolated cytochrome c oxidase deficiency

@en

Mutation screening in patients with isolated cytochrome c oxidase deficiency

@nl

type

label

Mutation screening in patients with isolated cytochrome c oxidase deficiency

@ast

Mutation screening in patients with isolated cytochrome c oxidase deficiency

@en

Mutation screening in patients with isolated cytochrome c oxidase deficiency

@nl

altLabel

Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency

@en

prefLabel

Mutation screening in patients with isolated cytochrome c oxidase deficiency

@ast

Mutation screening in patients with isolated cytochrome c oxidase deficiency

@en

Mutation screening in patients with isolated cytochrome c oxidase deficiency

@nl

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00006450-200302000-00005

01.PDR.0000048100.91730.6A

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Pediatric Research

P1476

Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency

@en

P2093

Ali B Naini

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

Carolyn M Sue

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

Darryl C De Vivo

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

Eduardo Bonilla

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

Leonardo Salviati

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

Mercy M Davidson

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

Sabrina Sacconi

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

Sara Shanske

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

P2860

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

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

Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant

Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

An investigation of the metabolism of isoleucine to active Amyl alcohol in Saccharomyces cerevisiae.

Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast.

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10.1203/00006450-200302000-00005

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2

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53

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Salvatore DiMauro

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1030952463

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