A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy (Q24536088)

4 July 2017

title

A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy (English)

1 reference

4 July 2017

0 references

1 reference

Isla Ogilvie

1

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4 July 2017

Nancy G Kennaway

series ordinal

2

1 reference

4 July 2017

Eric A Shoubridge

series ordinal

3

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4 July 2017

language of work or name

English

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publication date

1 October 2005

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Journal of Clinical Investigation

4 July 2017

published in

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4 July 2017

volume

115

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4 July 2017

issue

10

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4 July 2017

page(s)

2784-2792

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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

4 July 2017

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24 March 2017

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24 March 2017

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24 March 2017

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A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

24 March 2017

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24 March 2017

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24 March 2017

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Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

24 March 2017

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24 March 2017

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Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

24 March 2017

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24 March 2017

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Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

24 March 2017

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24 March 2017

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24 March 2017

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7 April 2017

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7 April 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

30 May 2018

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29 November 2018

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Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1236688

Analysis of the subunit composition of complex I from bovine heart mitochondria

29 November 2018

1 reference

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

29 November 2018

1 reference

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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

29 November 2018

1 reference

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

29 November 2018

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Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin

29 November 2018

1 reference

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Resolution of the Membrane Domain of Bovine Complex I into Subcomplexes: Implications for the Structural Organization of the Enzyme

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16200211

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic variation in leukoencephalopathy with vanishing white matter

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16200211

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI26020

1 reference

OpenCitations bibliographic resource ID

4 July 2017

1547303

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference