Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy. (Q33945277)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20546606%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy (English)

1 reference

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autosomal dominant optic atrophy

5 February 2020

main subject

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author

Eberhart Zrenner

7

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5 February 2020

Marcel V. Alavi

9

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5 February 2020

1

Nico Fuhrmann

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5 February 2020

8

Bernd Wissinger

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5 February 2020

author name string

Simone Schimpf

2

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5 February 2020

York Kamenisch

3

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5 February 2020

Beate Leo-Kottler

4

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5 February 2020

Christiane Alexander

5

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5 February 2020

Georg Auburger

6

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5 February 2020

publication date

14 June 2010

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Molecular Neurodegeneration

5 February 2020

published in

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5 February 2020

volume

5

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5 February 2020

page(s)

25

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describes a project that uses

5 February 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

cites work

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

1 reference

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Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1

5 July 2018

1 reference

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Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells

5 July 2018

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Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy

5 July 2018

1 reference

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Mitochondrial OPA1, apoptosis, and heart failure

5 July 2018

1 reference

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Frequency and selectivity of mitochondrial fusion are key to its quality maintenance function

5 July 2018

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Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

5 July 2018

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A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

5 July 2018

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Mitochondrial fusion, fission and autophagy as a quality control axis: the bioenergetic view

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Fission and selective fusion govern mitochondrial segregation and elimination by autophagy

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

5 July 2018

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Regulation of the mitochondrial dynamin-like protein Opa1 by proteolytic cleavage

5 July 2018

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OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L.

5 July 2018

1 reference

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OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria

5 July 2018

1 reference

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A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

5 July 2018

1 reference

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Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology

5 July 2018

1 reference

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OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

5 July 2018

1 reference

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Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling

5 July 2018

1 reference

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Regulation of mitochondrial morphology through proteolytic cleavage of OPA1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893178

OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893178

OPA1 requires mitofusin 1 to promote mitochondrial fusion

5 July 2018

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Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis

5 July 2018

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OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

5 July 2018

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Mgm1p, a dynamin-related GTPase, is essential for fusion of the mitochondrial outer membrane

5 July 2018

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The intramitochondrial dynamin-related GTPase, Mgm1p, is a component of a protein complex that mediates mitochondrial fusion

5 July 2018

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Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development

5 July 2018

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

5 July 2018

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

5 July 2018

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The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space

5 July 2018

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5 July 2018

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

5 July 2018

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

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

5 July 2018

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5 July 2018

1 reference

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OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.

5 July 2018

1 reference

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Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.

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1 reference

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

29 October 2018

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29 October 2018

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29 October 2018

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29 October 2018

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A third locus for dominant optic atrophy on chromosome 22q.

29 October 2018

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Hereditary optic atrophy with dominant transmission; three Danish families.

29 October 2018

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Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

29 October 2018

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Chronologic and Physiologic Age Affect Replicative Life-Span of Fibroblasts from Diabetic, Prediabetic, and Normal Donors

29 October 2018

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12 December 2020

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

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12 December 2020

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

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12 December 2020

Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy

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[Hereditary optic atrophy]

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12 December 2020

Hereditary optic atrophies in childhood

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[Hereditary optic atrophy with dominant transmission; with special reference to the associated color-sense disorder]

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12 December 2020

OPA1 alternate splicing uncouples an evolutionary conserved function in mitochondrial fusion from a vertebrate restricted function in apoptosis

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12 December 2020

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons

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12 December 2020

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

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12 December 2020

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12 December 2020

Identifiers

DOI

10.1186/1750-1326-5-25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20546606%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20546606%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

PubMed publication ID

20546606

1 reference