Mitochondrial complex I: structure, function and pathology (Q36534792)

14 August 2017

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title

Mitochondrial complex I: structure, function and pathology (English)

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14 August 2017

Lambert P van den Heuvel

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3

object named as

Lambert P van den Heuvel

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14 August 2017

Rolf J R J Janssen

1

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PubMed ID

16838076

14 August 2017

Leo G Nijtmans

series ordinal

2

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PubMed ID

16838076

14 August 2017

Jan A M Smeitink

series ordinal

4

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14 August 2017

11 July 2006

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Journal of Inherited Metabolic Disease

14 August 2017

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14 August 2017

29

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14 August 2017

499-515

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14 August 2017

4

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https://scigraph.springernature.com/pub.10.1007/s10545-006-0362-4

14 August 2017

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cites work

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0362-4

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0362-4

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0362-4

Structure of the respiratory NADH:ubiquinone oxidoreductase (complex I)

21 January 2018

1 reference

12 December 2020

Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder.

1 reference

12 December 2020

Mitochondrial encephalomyopathies: an update

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12 December 2020

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

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12 December 2020

Complex I: a chimaera of a redox and conformation-driven proton pump?

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12 December 2020

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

1 reference

12 December 2020

The nuclear encoded subunits of complex I from bovine heart mitochondria

1 reference

12 December 2020

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

1 reference

12 December 2020

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

1 reference

12 December 2020

Human mitochondrial complex I assembly is mediated by NDUFAF1.

1 reference

12 December 2020

Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

A role for native lipids in the stabilization and two-dimensional crystallization of the Escherichia coli NADH-ubiquinone oxidoreductase (complex I).

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12 December 2020

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

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12 December 2020

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

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12 December 2020

Mitochondrial fatty acid synthesis: a relic of endosymbiontic origin and a specialized means for respiration

1 reference

12 December 2020

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

1 reference

12 December 2020

Organization of iron-sulfur clusters in respiratory complex I.

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12 December 2020

Neuropathology of white matter disease in Leber's hereditary optic neuropathy.

1 reference

12 December 2020

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

1 reference

12 December 2020

Human NADH:ubiquinone oxidoreductase

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Resolution of the Membrane Domain of Bovine Complex I into Subcomplexes: Implications for the Structural Organization of the Enzyme

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12 December 2020

Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus

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12 December 2020

Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

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12 December 2020

Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder

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12 December 2020

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

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12 December 2020

Consensus sequences as substrate specificity determinants for protein kinases and protein phosphatases

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12 December 2020

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

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12 December 2020

Leigh disease associated with a novel mitochondrial DNA ND5 mutation

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12 December 2020

The phosphorylation of subunits of complex I from bovine heart mitochondria.

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

The reduction of NADH ubiquinone oxidoreductase 24- and 75-kDa subunits in brains of patients with Down syndrome and Alzheimer's disease

1 reference

12 December 2020

Biophysical and structural characterization of proton-translocating NADH-dehydrogenase (complex I) from the strictly aerobic yeast Yarrowia lipolytica

1 reference

12 December 2020

Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees.

1 reference

12 December 2020

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Consistent structure between bacterial and mitochondrial NADH:ubiquinone oxidoreductase (complex I).

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12 December 2020

Complex I from the fungus Neurospora crassa

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12 December 2020

The location of NuoL and NuoM subunits in the membrane domain of the Escherichia coli complex I: implications for the mechanism of proton pumping

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12 December 2020

Interactions between phospholipids and NADH:ubiquinone oxidoreductase (complex I) from bovine mitochondria.

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12 December 2020

Complex I defect in muscle from patients with Huntington's disease.

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12 December 2020

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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12 December 2020

Different respiratory-defective phenotypes of Neurospora crassa and Saccharomyces cerevisiae after inactivation of the gene encoding the mitochondrial acyl carrier protein.

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12 December 2020

The gross structure of the respiratory complex I: a Lego System

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12 December 2020

The NuoI subunit of the Rhodobacter capsulatus respiratory Complex I (equivalent to the bovine TYKY subunit) is required for proper assembly of the membraneous and peripheral domains of the enzyme

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12 December 2020

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

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12 December 2020

Proton pumping by NADH:ubiquinone oxidoreductase. A redox driven conformational change mechanism?

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12 December 2020

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

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12 December 2020

Clinical and molecular findings in children with complex I deficiency

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12 December 2020

Electron microscopic analysis of the peripheral and membrane parts of mitochondrial NADH dehydrogenase (Complex I)

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12 December 2020

Mitochondrial myopathies and encephalomyopathies

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12 December 2020

Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease

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12 December 2020

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

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12 December 2020

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

1 reference

12 December 2020

Structural analysis of NADH: ubiquinone oxidoreductase from bovine heart mitochondria.

1 reference

12 December 2020

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

1 reference

12 December 2020

Conformation-driven and semiquinone-gated proton-pump mechanism in the NADH-ubiquinone oxidoreductase (complex I).

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12 December 2020

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

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12 December 2020

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

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12 December 2020

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.

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12 December 2020

Mass spectrometric identification of a novel phosphorylation site in subunit NDUFA10 of bovine mitochondrial complex I

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12 December 2020

Identification of GRIM-19, a novel cell death-regulatory gene induced by the interferon-beta and retinoic acid combination, using a genetic approach

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12 December 2020

GRIM-19, a cell death regulatory protein, is essential for assembly and function of mitochondrial complex I

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12 December 2020

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

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12 December 2020

Prohibitins act as a membrane-bound chaperone for the stabilization of mitochondrial proteins.

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12 December 2020

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

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12 December 2020

Assembly of Respiratory Complexes I, III, and IV into NADH Oxidase Supercomplex Stabilizes Complex I in Paracoccus denitrificans

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12 December 2020

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

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12 December 2020

The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade

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12 December 2020

Analysis of steady-state protein phosphorylation in mitochondria using a novel fluorescent phosphosensor dye.

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12 December 2020

Mitochondrial complex I subunits expression is altered in schizophrenia: a postmortem study.

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12 December 2020

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

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12 December 2020

Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits.

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12 December 2020

The mitochondrial electron transport and oxidative phosphorylation system

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12 December 2020

Respiratory chain supercomplexes of mitochondria and bacteria

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12 December 2020

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

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12 December 2020

In vivo dissection of the mitochondrial respiratory NADH: ubiquinone oxidoreductase (complex I).

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12 December 2020

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

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12 December 2020

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

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12 December 2020

Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin

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12 December 2020

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

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12 December 2020

Complex I assembly: a puzzling problem.

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12 December 2020

Identification of tyrosine-phosphorylated proteins of the mitochondrial oxidative phosphorylation machinery

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12 December 2020

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

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12 December 2020

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

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12 December 2020

Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction

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12 December 2020

Biogenesis of respiratory complex I.

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12 December 2020

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

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12 December 2020

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

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12 December 2020

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

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12 December 2020

Significance of respirasomes for the assembly/stability of human respiratory chain complex I.

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12 December 2020

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

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12 December 2020

The genetics and pathology of oxidative phosphorylation

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12 December 2020

Respiratory complex III is required to maintain complex I in mammalian mitochondria

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A novel, enzymatically active conformation of the Escherichia coli NADH:ubiquinone oxidoreductase (complex I).

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12 December 2020

Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I.

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12 December 2020

Mammalian mitochondria contain a soluble acyl carrier protein

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The post-translational modifications of the nuclear encoded subunits of complex I from bovine heart mitochondria.

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12 December 2020

Development and characterization of a conditional mitochondrial complex I assembly system

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12 December 2020

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

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12 December 2020

Mitochondrial ND5 mutations in idiopathic Parkinson's disease

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12 December 2020

Cryo-electron crystallography of two sub-complexes of bovine complex I reveals the relationship between the membrane and peripheral arms.

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12 December 2020

Mitochondrial genetic control of assembly and function of complex I in mammalian cells

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12 December 2020

From NADH to ubiquinone in Neurospora mitochondria

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

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12 December 2020

Primary and secondary defects of the mitochondrial respiratory chain

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12 December 2020

Subacute necrotizing encephalomyelopathy in an infant

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12 December 2020

A reductase/isomerase subunit of mitochondrial NADH:ubiquinone oxidoreductase (complex I) carries an NADPH and is involved in the biogenesis of the complex.

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12 December 2020

Complex I and Parkinson's disease

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12 December 2020

The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme

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12 December 2020

GRIM-19, a cell death regulatory gene product, is a subunit of bovine mitochondrial NADH:ubiquinone oxidoreductase (complex I)

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12 December 2020

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

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12 December 2020

Parkinson's disease brain mitochondrial complex I has oxidatively damaged subunits and is functionally impaired and misassembled.

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12 December 2020

Three-dimensional structure of bovine NADH:ubiquinone oxidoreductase (complex I) at 22 A in ice.

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12 December 2020

10.1007/S10545-006-0362-4

Identifiers

DOI

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14 August 2017

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PubMed ID

16838076