NDUFA2 complex I mutation leads to Leigh disease (Q28282142)

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8 January 2020

title

NDUFA2 complex I mutation leads to Leigh disease (English)

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8 January 2020

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8 January 2020

Peter H Willems

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8 January 2020

Lambert P van den Heuvel

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object named as

Lambert P van den Heuvel

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8 January 2020

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Jan A M Smeitink

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8 January 2020

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Leo G Nijtmans

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8 January 2020

1

Saskia J G Hoefs

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8 January 2020

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Felix Distelmaier

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8 January 2020

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Cindy E J Dieteren

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8 January 2020

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Marleen Forkink

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8 January 2020

author name string

Rolf J R J Janssen

4

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8 January 2020

Andrea Epplen

5

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8 January 2020

Herman G P Swarts

6

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8 January 2020

language of work or name

English

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publication date

1 June 2008

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American Journal of Human Genetics

8 January 2020

published in

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8 January 2020

volume

82

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8 January 2020

page(s)

1306-1315

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8 January 2020

issue

6

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C6ORF66 is an assembly factor of mitochondrial complex I

8 January 2020

cites work

1 reference

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Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

1 reference

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The oxidized subunit B8 from human complex I adopts a thioredoxin fold

20 March 2017

1 reference

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Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427319

The nuclear encoded subunits of complex I from bovine heart mitochondria

20 March 2017

1 reference

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Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

20 March 2017

1 reference

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The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification

20 March 2017

1 reference

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Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

20 March 2017

1 reference

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

20 March 2017

1 reference

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

20 March 2017

1 reference

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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

20 March 2017

1 reference

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

20 March 2017

1 reference

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Human NADH:ubiquinone oxidoreductase

20 March 2017

1 reference

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

20 March 2017

1 reference

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427319

Life cell quantification of mitochondrial membrane potential at the single organelle level.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427319

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

29 September 2017

1 reference

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Interaction of nonsteroidal anti-inflammatory drugs with multidrug resistance protein (MRP) 2/ABCC2- and MRP4/ABCC4-mediated methotrexate transport

29 September 2017

1 reference

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Mitochondrial complex I: structure, function and pathology

29 September 2017

1 reference

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Tracing the evolution of a large protein complex in the eukaryotes, NADH:ubiquinone oxidoreductase (Complex I).

29 September 2017

1 reference

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Inhibition of complex I of the electron transport chain causes O2-. -mediated mitochondrial outgrowth.

29 September 2017

1 reference

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

29 September 2017

1 reference

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Blue Native electrophoresis to study mitochondrial and other protein complexes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427319

The genetics and pathology of oxidative phosphorylation

29 September 2017

1 reference

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

29 September 2017

1 reference

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NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings

29 September 2017

1 reference

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Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins

29 September 2017

1 reference

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Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

29 September 2017

1 reference

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Phytanic acid impairs mitochondrial respiration through protonophoric action.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427319

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427319

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427319

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18513682

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18513682

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.05.007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18513682%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18513682%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference