Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients (Q34612081)

3 August 2017

Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients (English)

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3 August 2017

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Rutger O Vogel

1

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3 August 2017

Mariël A M van den Brand

2

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3 August 2017

Richard J Rodenburg

3

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3 August 2017

Lambert P W J van den Heuvel

4

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3 August 2017

Makoto Tsuneoka

5

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3 August 2017

Jan A M Smeitink

6

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3 August 2017

Leo G J Nijtmans

7

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3 August 2017

26 March 2007

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Molecular Genetics and Metabolism

3 August 2017

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3 August 2017

91

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3 August 2017

2

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3 August 2017

176-182

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Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders

3 August 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Mitochondrial complex I: structure, function and pathology

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Bovine complex I is a complex of 45 different subunits.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Modular evolution of the respiratory NADH:ubiquinone oxidoreductase and the origin of its modules

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Organization and evolution of structural elements within complex I

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

The respiratory complex I of bacteria, archaea and eukarya and its module common with membrane-bound multisubunit hydrogenases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

The 'antiporter module' of respiratory chain complex I includes the MrpC/NuoK subunit -- a revision of the modular evolution scheme

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Complex I assembly: a puzzling problem.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

CIA30 complex I assembly factor: a candidate for human complex I deficiency?

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Human mitochondrial complex I assembly is mediated by NDUFAF1.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Oxa1/Alb3/YidC system for insertion of membrane proteins in mitochondria, chloroplasts and bacteria (review).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Blue Native electrophoresis to study mitochondrial and other protein complexes

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.007

10.1016/J.YMGME.2007.02.007

7 January 2021

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3 August 2017

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