(Q47074411)

English

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

scientific article published on 2 November 2012

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

cytochrome c oxidase assembly factor COX20

1 reference

GOA release 2020-03-11

mitochondrial cytochrome c oxidase assembly

1 reference

GOA release 2020-03-11

Richard J Rodenburg

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Christian Gilissen

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Joris A Veltman

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Peter H Willems

13

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Martijn A Huynen

15

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Leo G J Nijtmans

3

object named as

Leo G Nijtmans

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Radek Szklarczyk

1

object named as

Radek Szklarczyk

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

author name string

Bas F J Wanschers

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Johannes Zschocke

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Nicola Dikow

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Mariël A M van den Brand

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Marthe G M Hendriks-Franssen

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Marco Nooteboom

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Werner J H Koopman

12

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Jan A M Smeitink

14

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Lambertus P van den Heuvel

16

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

publication date

2 November 2012

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

22

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

656-667

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23125284%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Affinity purification of yeast cytochrome oxidase with biotinylated subunits 4, 5, or 6.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Mitochondrial respiratory-chain diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Physical interaction and functional coupling between ACDP4 and the intracellular ion chaperone COX11, an implication of the role of ACDP4 in essential metal ion transport and homeostasis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Assembly of cytochrome-c oxidase in cultured human cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Identification of Cox20p, a novel protein involved in the maturation and assembly of cytochrome oxidase subunit 2.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Mba1, a novel component of the mitochondrial protein export machinery of the yeast Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Biogenesis of cytochrome oxidase-sophisticated assembly lines in the mitochondrial inner membrane

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Multiple roles of the Cox20 chaperone in assembly of Saccharomyces cerevisiae cytochrome c oxidase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Intracellular gene transfer in action: dual transcription and multiple silencings of nuclear and mitochondrial cox2 genes in legumes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

In Polytomella sp. mitochondria, biogenesis of the heterodimeric COX2 subunit of cytochrome c oxidase requires two different import pathways.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

A mitochondrial protein compendium elucidates complex I disease biology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Coiled coil domain-containing protein 56 (CCDC56) is a novel mitochondrial protein essential for cytochrome c oxidase function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

dbSNP: the NCBI database of genetic variation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

A map of human genome variation from population-scale sequencing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Biochemical diagnosis of mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Estimation of NADH oxidation in human skeletal muscle mitochondria.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Alterations of the mitochondrial proteome caused by the absence of mitochondrial DNA: A proteomic view

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Protein homology detection by HMM-HMM comparison

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Expression analysis of G Protein-Coupled Receptors in mouse macrophages

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Human mitochondrial complex I assembly is mediated by NDUFAF1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Human Dna2 is a nuclear and mitochondrial DNA maintenance protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Electrophoresis techniques to investigate defects in oxidative phosphorylation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS473

21 January 2018

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q47074411&oldid=1944672279"