(Q43233599)

16 November 2017

MFN2 mutations cause compensatory mitochondrial DNA proliferation (English)

1 reference

16 November 2017

0 references

Bernd Rautenstrauss

5

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Rita Horvath

object named as

Rita Horvath

series ordinal

8

0 references

Angela Pyle

series ordinal

3

object named as

Angela Pyle

1 reference

16 November 2017

2

Patrick Yu-Wai-Man

1 reference

16 November 2017

9

Patrick F Chinnery

1 reference

16 November 2017

7

Mary M Reilly

1 reference

16 November 2017

1

Kamil S Sitarz

1 reference

16 November 2017

Joanna D Stewart

4

1 reference

16 November 2017

Pavel Seeman

series ordinal

6

1 reference

16 November 2017

language of work or name

English

0 references

publication date

4 April 2012

1 reference

16 November 2017

1 reference

16 November 2017

135

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16 November 2017

Pt 8

1 reference

16 November 2017

e219, 1-3; author reply e220, 1-3

1 reference

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

16 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

Multi-system neurological disease is common in patients with OPA1 mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

The diagnosis of mitochondrial muscle disease.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

Relaxed replication of mtDNA: A model with implications for the expression of disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

A model of the nuclear control of mitochondrial DNA replication.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407419

15 August 2018

Identifiers

DOI

10.1093/BRAIN/AWS049

1 reference

16 November 2017

1 reference

16 November 2017

PubMed publication ID

22492563

1 reference