Human mitochondrial complex I in health and disease (Q24540036)

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English	Human mitochondrial complex I in health and disease	scientific article

Statements

instance of

scholarly article

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review article

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stated in

Europe PubMed Central

title

Human mitochondrial complex I in health and disease (English)

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main subject

mitochondrion

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based on heuristic

inferred from title

author name string

J Smeitink

series ordinal

1

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L van den Heuvel

series ordinal

2

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language of work or name

English

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publication date

June 1999

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published in

American Journal of Human Genetics

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volume

64

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issue

6

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page(s)

1505-10

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cites work

Subacute necrotizing encephalomyelopathy in an infant

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PubMed Central

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24 March 2017

cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed

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PubMed Central

reference URL

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24 March 2017

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

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PubMed Central

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24 March 2017

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

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PubMed Central

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24 March 2017

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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24 March 2017

Preprotein translocase of the outer mitochondrial membrane: molecular dissection and assembly of the general import pore complex

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PubMed Central

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24 March 2017

Tom40 forms the hydrophilic channel of the mitochondrial import pore for preproteins [see comment].

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PubMed Central

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24 March 2017

Carrier protein import into mitochondria mediated by the intermembrane proteins Tim10/Mrs11 and Tim12/Mrs5.

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PubMed Central

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24 March 2017

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I

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24 March 2017

Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain

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PubMed Central

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24 March 2017

Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping

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PubMed Central

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24 March 2017

The human Surfeit locus

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PubMed Central

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24 March 2017

Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect

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24 March 2017

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

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PubMed Central

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24 March 2017

Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13.

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PubMed Central

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27 September 2017

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377894

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27 September 2017

NADH:ubiquinone oxidoreductase from bovine heart mitochondria: sequence of a novel 17.2-kDa subunit.

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PubMed Central

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27 September 2017

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

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PubMed Central

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27 September 2017

Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?

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PubMed Central

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27 September 2017

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

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PubMed Central

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27 September 2017

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

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PubMed Central

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27 September 2017

Mitochondrial DNA maintenance in vertebrates

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PubMed Central

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27 September 2017

The gene locus of the proton-translocating NADH: ubiquinone oxidoreductase in Escherichia coli. Organization of the 14 genes and relationship between the derived proteins and subunits of mitochondrial complex I.

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377894

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27 September 2017

The mitochondrial electron transport and oxidative phosphorylation system

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PubMed Central

reference URL

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27 September 2017

Diseases of the mitochondrial DNA.

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PubMed Central

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27 September 2017

The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains

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PubMed Central

reference URL

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27 September 2017

Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase

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PubMed Central

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27 September 2017

Nuclear-mitochondrial intergenomic communication

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PubMed Central

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30 May 2018

Regulation of muscle mitochondrial design

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PubMed Central

reference URL

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30 May 2018

Catalytic sector of complex I (NADH:ubiquinone oxidoreductase): subunit stoichiometry and substrate-induced conformation changes

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PubMed Central

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30 May 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377894

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29 November 2018

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377894

retrieved

29 November 2018

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

stated in

PubMed Central

reference URL

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retrieved

29 November 2018

Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/10330338

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial Disorders

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/10330338

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Yield of mtDNA mutation analysis in 2,000 patients

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/10330338

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/10330338

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1086%2F302432

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1086/302432

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

787445

OpenCitations bibliographic resource ID

787445

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

787445

PMC publication ID

1377894

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

787445

PubMed publication ID

10330338

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

787445

ResearchGate publication ID

12969040

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