(Q37004752)

17 August 2017

0 references

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease (English)

1 reference

17 August 2017

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0 references

1 reference

M J Blok

1

1 reference

17 August 2017

L Spruijt

2

1 reference

17 August 2017

I F M de Coo

3

1 reference

17 August 2017

K Schoonderwoerd

4

1 reference

17 August 2017

A Hendrickx

5

1 reference

17 August 2017

H J Smeets

6

1 reference

17 August 2017

language of work or name

English

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publication date

1 April 2007

1 reference

Journal of Medical Genetics

17 August 2017

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17 August 2017

44

1 reference

17 August 2017

4

1 reference

17 August 2017

e74

1 reference

The transmission of OXPHOS disease and methods to prevent this

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

Mitochondrial DNA mutations in human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

Mitochondrial disorders: prevalence, myths and advances.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

Genetic and functional analysis of mitochondrial DNA-encoded complex I genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

Genetic defects in the oxidative phosphorylation (OXPHOS) system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

The genetics and pathology of oxidative phosphorylation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598042

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

4 September 2018

1 reference

12 December 2020

Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications

1 reference

12 December 2020

A motif for quinone binding sites in respiratory and photosynthetic systems

1 reference

12 December 2020

Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation

1 reference

12 December 2020

Large-scale mitochondrial DNA deletions in skeletal muscle of patients with end-stage renal disease

1 reference

12 December 2020

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.045716

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

17400793

1 reference