(Q34508388)

2 August 2017

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

1 reference

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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2 August 2017

Mohit Jain

2

1 reference

2 August 2017

Xiaohui Xie

3

1 reference

2 August 2017

Sunil A Sheth

4

1 reference

2 August 2017

Betty Chang

5

1 reference

2 August 2017

Olga A Goldberger

6

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2 August 2017

Antonella Spinazzola

7

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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

38

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2 August 2017

576-582

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2 August 2017

5

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https://scigraph.springernature.com/pub.10.1038/ng1776

2 August 2017

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cites work

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

1 reference

MitoProteome: mitochondrial protein sequence database and annotation system

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Characterization of the human heart mitochondrial proteome

21 January 2018

1 reference

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

21 January 2018

1 reference

Integrative analysis of the mitochondrial proteome in yeast

21 January 2018

1 reference

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

21 January 2018

1 reference

The genome sequence of Rickettsia prowazekii and the origin of mitochondria

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

1 reference

Genetic features of mitochondrial respiratory chain disorders

21 January 2018

1 reference

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

21 January 2018

1 reference

Nuclear gene defects in respiratory chain disorders

21 January 2018

1 reference

Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Infantile bilateral striatal necrosis maps to chromosome 19q.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

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.

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1776

1 reference

2 August 2017

1 reference