(Q30368414)

14 October 2017

A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family (English)

1 reference

autosomal dominant optic atrophy

14 October 2017

0 references

author

Zi-Bing Jin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

Liping Zhang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Wei Shi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Liming Song

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Xiao Zhang

4

1 reference

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8 June 2020

Lulu Cheng

5

1 reference

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8 June 2020

Yanfang Wang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Xianglian Ge

7

1 reference

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8 June 2020

Wei Li

8

1 reference

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8 June 2020

Wei Zhang

9

1 reference

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8 June 2020

Qingjie Min

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Jia Qu

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Feng Gu

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

language of work or name

English

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publication date

6 November 2014

1 reference

14 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

4

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8 June 2020

page(s)

6936

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Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International

8 June 2020

copyright license

start time

6 November 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Molecular diagnosis of putative Stargardt disease by capture next generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

Proteolytic cleavage of Opa1 stimulates mitochondrial inner membrane fusion and couples fusion to oxidative phosphorylation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

NIH Image to ImageJ: 25 years of image analysis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

3 June 2018

Dominant optic atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

Mutation spectrum and splicing variants in the OPA1 gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

Linkage analysis in dominant optic atrophy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221781

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

3 June 2018

1 reference

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals.

21 January 2018

1 reference

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

21 January 2018

1 reference

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

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

21 January 2018

1 reference

12 December 2020

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects

1 reference

12 December 2020

Hereditary optic neuropathies

1 reference

12 December 2020

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis

1 reference

12 December 2020

Identifiers

DOI

10.1038/SREP06936

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

8 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

PubMed publication ID

25374051

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25374051%20AND%20SRC:MED&resulttype=core&format=json