Systematic identification of human mitochondrial disease genes through integrative genomics (Q34508388)

2 August 2017

title

Systematic identification of human mitochondrial disease genes through integrative genomics (English)

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2 August 2017

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mitochondrial disease

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8

Massimo Zeviani

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2 August 2017

10

Vamsi K Mootha

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2 August 2017

Sarah Calvo

1

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Mohit Jain

2

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2 August 2017

Xiaohui Xie

3

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Sunil A Sheth

4

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Betty Chang

5

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Olga A Goldberger

6

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Antonella Spinazzola

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2 August 2017

Steven A Carr

9

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2 August 2017

language of work or name

English

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publication date

2 April 2006

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2 August 2017

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2 August 2017

volume

38

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issue

5

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2 August 2017

page(s)

576-582

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MitoP2, an integrated database on mitochondrial proteins in yeast and man

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cites work

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MitoProteome: mitochondrial protein sequence database and annotation system

21 January 2018

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High-throughput profiling of the mitochondrial proteome using affinity fractionation and automation

21 January 2018

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Predicting subcellular localization of proteins based on their N-terminal amino acid sequence

21 January 2018

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Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria

21 January 2018

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Characterization of the human heart mitochondrial proteome

21 January 2018

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A Bayesian Networks Approach for Predicting Protein-Protein Interactions from Genomic Data

21 January 2018

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Integrative analysis of the mitochondrial proteome in yeast

21 January 2018

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Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle

21 January 2018

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The genome sequence of Rickettsia prowazekii and the origin of mitochondria

21 January 2018

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A gene atlas of the mouse and human protein-encoding transcriptomes

21 January 2018

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Transcriptional co-activator PGC-1 alpha drives the formation of slow-twitch muscle fibres

21 January 2018

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MITOPRED: a genome-scale method for prediction of nucleus-encoded mitochondrial proteins.

21 January 2018

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ECSIT is an evolutionarily conserved intermediate in the Toll/IL-1 signal transduction pathway

21 January 2018

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21 January 2018

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Genetic features of mitochondrial respiratory chain disorders

21 January 2018

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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

21 January 2018

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Nuclear gene defects in respiratory chain disorders

21 January 2018

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Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

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PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

21 January 2018

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MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13.

21 January 2018

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Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

21 January 2018

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Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity

21 January 2018

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A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.

21 January 2018

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Infantile bilateral striatal necrosis maps to chromosome 19q.

21 January 2018

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Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q

21 January 2018

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species

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inferred from DOI database lookup

7 January 2021

based on heuristic

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1776

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2 August 2017

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