Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency (Q38249965)

1 September 2017

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title

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency (English)

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1 September 2017

mitochondrial disease

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Immo E Scheffler

1

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1 September 2017

16 September 2014

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Journal of Inherited Metabolic Disease

1 September 2017

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1 September 2017

38

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1 September 2017

405-415

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1 September 2017

3

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https://scigraph.springernature.com/pub.10.1007/s10545-014-9768-6

1 September 2017

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cites work

Subunit composition of mitochondrial complex I from the yeast Yarrowia lipolytica.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

A scaffold of accessory subunits links the peripheral arm and the distal proton-pumping module of mitochondrial complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Crystal structure of the entire respiratory complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Integrity of mitochondria in a mammalian cell mutant defective in mitochondrial protein synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

cAMP-dependent protein kinase regulates the mitochondrial import of the nuclear encoded NDUFS4 subunit of complex I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

The selection of Chinese hamster cells deficient in oxidative energy metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Chinese hamster cell mutant with defective mitochondrial protein synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

The mitochondrial electron transport and oxidative phosphorylation system

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Proteins, polypeptides, prosthetic groups, and enzymic properties of complexes I, II, III, IV, and V of the mitochondrial oxidative phosphorylation system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Towards the molecular mechanism of respiratory complex I.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Molecular base of biochemical complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mitochondrial DNA polymorphism in mitochondrial myopathy

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Production of mitochondrial DNA transgenic mice using zygotes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

AIF: not just an apoptosis-inducing factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Maturation of iron-sulfur proteins in eukaryotes: mechanisms, connected processes, and diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

The mitochondrial theory of aging and its relationship to reactive oxygen species damage and somatic mtDNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Protection by the NDI1 gene against neurodegeneration in a rotenone rat model of Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Successful amelioration of mitochondrial optic neuropathy using the yeast NDI1 gene in a rat animal model

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Understanding mitochondrial complex I assembly in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mitochondrial complex I plays an essential role in human respirasome assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

A Chinese hamster mutant cell line with a defect in the integral membrane protein CII-3 of complex II of the mitochondrial electron transport chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mitochondrial complex I deficiency of nuclear origin I. Structural genes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

The role of the ESSS protein in the assembly of a functional and stable mammalian mitochondrial complex I (NADH-ubiquinone oxidoreductase).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

C6ORF66 is an assembly factor of mitochondrial complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Expression of the yeast NADH dehydrogenase Ndi1 in Drosophila confers increased lifespan independently of dietary restriction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Molecular genetics of complex I-deficient Chinese hamster cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Molecular remedy of complex I defects: rotenone-insensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae mitochondria restores the NADH oxidase activity of complex I-deficient mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Iron-sulfur proteins in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mitochondrial DNA and the mammalian oocyte.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Medicine. Sidestepping mutational meltdown

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mitochondrial disorders: clinical presentation and diagnostic dilemmas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mammalian cells with defective mitochondrial functions: a Chinese hamster mutant cell line lacking succinate dehydrogenase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Respiration-deficient Chinese hamster cell mutants: Genetic characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

AIF deficiency compromises oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Human mitochondrial complex I assembly is mediated by NDUFAF1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Import and orientation of the MWFE protein in mitochondrial NADH-ubiquinone oxidoreductase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Development and characterization of a conditional mitochondrial complex I assembly system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Investigations of the potential effects of phosphorylation of the MWFE and ESSS subunits on complex I activity and assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Can a single subunit yeast NADH dehydrogenase (Ndi1) remedy diseases caused by respiratory complex I defects?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Mitochondrial tRNA mutations associated with deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9768-6

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

21 January 2018

1 reference

12 December 2020

Mapping of the genes of some components of the electron transport chain (complex I) on the X chromosome of mammals

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12 December 2020

Why does mitochondrial complex I have so many subunits?

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12 December 2020

A respiration-deficient Chinese hamster cell line with a defect in NADH-coenzyme Q reductase

1 reference

12 December 2020

A mitochondrial paradigm for degenerative diseases and ageing

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12 December 2020

Mitochondrial DNA in aging and disease

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12 December 2020

New evidence confirms that the mitochondrial bottleneck is generated without reduction of mitochondrial DNA content in early primordial germ cells of mice

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12 December 2020

Native electrophoresis for isolation of mitochondrial oxidative phosphorylation protein complexes

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12 December 2020

Mitochondrial energetics and therapeutics

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12 December 2020

Respiration-deficient Chinese hamster cell mutants: Biochemical characterization

1 reference

12 December 2020

Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I).

1 reference

12 December 2020

Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication

1 reference

12 December 2020

10.1007/S10545-014-9768-6

Identifiers

DOI

1 reference

PubMed ID

25224827

Dimensions Publication ID

1 September 2017

0 references

1 reference

PubMed ID

25224827