Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. (Q37428322)

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25 January 2020

review article

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title

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease (English)

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25 January 2020

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mitochondrial complex I deficiency

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4

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25 January 2020

Peter H Willems

6

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25 January 2020

author name string

Felix Distelmaier

1

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25 January 2020

Werner J H Koopman

2

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25 January 2020

Lambertus P van den Heuvel

3

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25 January 2020

Ertan Mayatepek

5

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25 January 2020

Jan A M Smeitink

7

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language of work or name

English

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publication date

31 March 2009

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25 January 2020

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25 January 2020

volume

132

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25 January 2020

page(s)

833-842

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25 January 2020

issue

Pt 4

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Mitochondria, oxidants, and aging

25 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Energy converting NADH:quinone oxidoreductase (complex I).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Bovine complex I is a complex of 45 different subunits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mitochondrial energetics and insulin resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mitochondria in health and disease: perspectives on a new mitochondrial biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

NDUFA2 complex I mutation leads to Leigh disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Phytanic acid impairs mitochondrial respiration through protonophoric action.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Ca2+ homeostasis in the agonist-sensitive internal store: functional interactions between mitochondria and the ER measured In situ in intact cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Assembly of mitochondrial complex I and defects in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mitochondrial respiratory chain complex assembly and function during human fetal development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mitochondrial membrane potential and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Eukaryotic complex I: functional diversity and experimental systems to unravel the assembly process

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mitochondrial threshold effects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

C6ORF66 is an assembly factor of mitochondrial complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Nuclear genetic defects of oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

The genetics and pathology of oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Ca2+-mobilizing agonists increase mitochondrial ATP production to accelerate cytosolic Ca2+ removal: aberrations in human complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Formation of elongated giant mitochondria in DFO-induced cellular senescence: involvement of enhanced fusion process through modulation of Fis1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

Increased production of reactive oxygen species in hyperglycemic conditions requires dynamic change of mitochondrial morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP058

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWP058

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19336460%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

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