(Q34612081)

3 August 2017

title

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

publication date

26 March 2007

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Molecular Genetics and Metabolism

3 August 2017

published in

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3 August 2017

volume

91

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3 August 2017

issue

2

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3 August 2017

page(s)

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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Bovine complex I is a complex of 45 different subunits.

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

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

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Human mitochondrial complex I assembly is mediated by NDUFAF1.

7 January 2021

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

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7 January 2021

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Blue Native electrophoresis to study mitochondrial and other protein complexes

7 January 2021

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7 January 2021

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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

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7 January 2021

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

7 January 2021

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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

7 January 2021

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

7 January 2021

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10.1016/J.YMGME.2007.02.007

7 January 2021

Identifiers

DOI

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3 August 2017

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