(Q48061457)

English

Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies.

scientific article published in December 2010

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scholarly article

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies. (English)

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

phosphorylation

1 reference

based on heuristic

inferred from title

Richard J Rodenburg

2

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

author name string

P Smits

1

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

J A M Smeitink

3

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

L P van den Heuvel

4

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

publication date

1 December 2010

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

33 Suppl 3

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

S13-9

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

https://scigraph.springernature.com/pub.10.1007/s10545-009-0968-4

0 references

Expression pattern and raft association of NIPSNAP3 and NIPSNAP4, highly homologous proteins encoded by genes in close proximity to the ATP-binding cassette transporter A1.

1 reference

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The organization and inheritance of the mitochondrial genome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

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Proteomic analysis of the mouse liver mitochondrial inner membrane

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

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The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization.

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Mitochondrial DNA polymerase-gamma and human disease

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Some practical aspects of providing a diagnostic service for respiratory chain defects

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

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Identification of a NIPSNAP homologue as host cell target for Salmonella virulence protein SpiC.

1 reference

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21 January 2018

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

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Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

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

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

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Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi

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Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

1 reference

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21 January 2018

Oxidative phosphorylation at the fin de siècle

1 reference

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21 January 2018

Identification of activity-regulated proteins in the postsynaptic density fraction.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

The epidemiology of mitochondrial disorders--past, present and future

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

Identification of Nipsnap1 as a novel auxiliary protein inhibiting TRPV6 activity.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

Human NADH:ubiquinone oxidoreductase

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

Reconstructing the evolution of the mitochondrial ribosomal proteome.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

GBAS, a novel gene encoding a protein with tyrosine phosphorylation sites and a transmembrane domain, is co-amplified with EGFR

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

Mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-0968-4

21 January 2018

Identifiers

10.1007/S10545-009-0968-4

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/24137763

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