(Q24309157)

English

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

scientific article

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scholarly article

1 reference

Europe PubMed Central

6 July 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 (English)

1 reference

Europe PubMed Central

6 July 2017

NADH:ubiquinone oxidoreductase subunit S4

1 reference

GOA release 2020-03-11

mitochondrial electron transport, NADH to ubiquinone

1 reference

GOA release 2020-03-11

author name string

van den Heuvel L

1

1 reference

Europe PubMed Central

6 July 2017

Ruitenbeek W

2

1 reference

Europe PubMed Central

6 July 2017

Smeets R

3

1 reference

Europe PubMed Central

6 July 2017

Gelman-Kohan Z

4

1 reference

Europe PubMed Central

6 July 2017

Elpeleg O

5

1 reference

Europe PubMed Central

6 July 2017

Loeffen J

6

1 reference

Europe PubMed Central

6 July 2017

Trijbels F

7

1 reference

Europe PubMed Central

6 July 2017

Mariman E

8

1 reference

Europe PubMed Central

6 July 2017

de Bruijn D

9

1 reference

Europe PubMed Central

6 July 2017

Smeitink J

10

1 reference

Europe PubMed Central

6 July 2017

language of work or name

0 references

publication date

1 February 1998

1 reference

Europe PubMed Central

6 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

6 July 2017

62

1 reference

Europe PubMed Central

6 July 2017

262-268

1 reference

Europe PubMed Central

6 July 2017

2

1 reference

Europe PubMed Central

6 July 2017

Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

19 March 2017

The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

19 March 2017

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

19 March 2017

Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

19 March 2017

Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

19 March 2017

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

19 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

27 September 2017

A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

19 March 2017

Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

19 March 2017

Protein kinase phosphorylation site sequences and consensus specificity motifs: tabulations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

7 April 2017

Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

27 September 2017

Structural organization of complex I from bovine mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

27 September 2017

Substrate and pseudosubstrate interactions with protein kinases: determinants of specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

27 September 2017

Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

27 September 2017

Diseases of the mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

27 September 2017

The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

27 September 2017

Three-dimensional structure of NADH-dehydrogenase from Neurospora crassa by electron microscopy and conical tilt reconstruction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

30 May 2018

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

30 May 2018

Mitochondrial NADH:ubiquinone oxidoreductase (complex I): proximity of the subunits of the flavoprotein and the iron-sulfur protein subcomplexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

30 May 2018

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

30 May 2018

Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

30 May 2018

Clinical aspects of mitochondrial disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376892

30 May 2018

Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The nuclear-encoded 18 kDa (IP) AQDQ subunit of bovine heart complex I is phosphorylated by the mitochondrial cAMP-dependent protein kinase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Benign mitochondrial encephalomyopathy in a patient with complex I deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequences of 20 subunits of NADH: Ubiquinone oxidoreductase from bovine heart mitochondria

1 reference

https://api.crossref.org/works/10.1086%2F301716

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Europe PubMed Central

6 July 2017

1 reference

Europe PubMed Central

6 July 2017

1 reference

Europe PubMed Central

6 July 2017

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