(Q34349348)

1 August 2017

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. (English)

1 reference

1 August 2017

15

Jan-Willem Taanman

1 reference

1 August 2017

9

Jim Stalker

1 reference

1 August 2017

2

Shamima Rahman

1 reference

1 August 2017

12

Mary G Sweeney

1 reference

1 August 2017

16

Michael G Hanna

1 reference

1 August 2017

Robert D S Pitceathly

1

object named as

Robert D S Pitceathly

1 reference

1 August 2017

Yehani Wedatilake

3

1 reference

1 August 2017

James M Polke

4

1 reference

1 August 2017

Sebahattin Cirak

5

1 reference

1 August 2017

A Reghan Foley

6

1 reference

1 August 2017

Anna Sailer

7

1 reference

1 August 2017

Matthew E Hurles

8

1 reference

1 August 2017

Iain Hargreaves

10

1 reference

1 August 2017

Cathy E Woodward

11

1 reference

1 August 2017

Francesco Muntoni

13

1 reference

1 August 2017

Henry Houlden

14

1 reference

1 August 2017

UK10K Consortium

17

1 reference

1 August 2017

6 June 2013

1 reference

1 August 2017

1 reference

1 August 2017

3

1 reference

1 August 2017

6

1 reference

1 August 2017

1795-1805

1 reference

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

NDUFA4 is a subunit of complex IV of the mammalian electron transport chain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

The Sequence Alignment/Map format and SAMtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

A mitochondrial protein compendium elucidates complex I disease biology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Human cytochrome c oxidase: structure, function, and deficiency.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Human cytochrome c oxidase isoenzymes from heart and skeletal muscle; purification and properties.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Selective killing of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Quantification of oxidative phosphorylation enzymes after blue native electrophoresis and two‐dimensional resolution: Normal complex I protein amounts in Parkinson's disease conflict with reduced catalytic activities

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701321

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23746447

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular mechanisms in mitochondrial DNA depletion syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23746447

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.CELREP.2013.05.005

1 reference

1 August 2017

1 reference

1 August 2017

1 reference