The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. (Q48762457)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

0 references

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Nathalie Bonello-Palot

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Vincent Procaccio

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Cécile Rouzier

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Sylvie Bannwarth

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Annabelle Chaussenot

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Annie Verschueren

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Konstantina Fragaki

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Aline Cano

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Jean Pouget

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Jean-François Pellissier

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Brigitte Chabrol

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Véronique Paquis-Flucklinger

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

language of work or name

English

0 references

publication date

20 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

135

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

23-34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

Pt 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22189565%20AND%20SRC:MED&resulttype=core&format=json

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

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Physiological functions of mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Hereditary optic neuropathies share a common mitochondrial coupling defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Domain interactions within Fzo1 oligomers are essential for mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

The QPCR assay for analysis of mitochondrial DNA damage, repair, and relative copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Mitochondrial fragmentation in neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Structural basis of mitochondrial tethering by mitofusin complexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Mitochondrial dynamics in mammalian health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Mitochondrial fusion intermediates revealed in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Cell sorting experiments link persistent mitochondrial DNA damage with loss of mitochondrial membrane potential and apoptotic cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR323