The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. (Q48248957)

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20 February 2020

title

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse (English)

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1

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Nathalie Boddaert

7

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20 February 2020

Cécile Delettre

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20 February 2020

Jean-Luc Puel

15

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Pascal Reynier

17

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Guy Lenaers

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Valérie Rigau

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20 February 2020

author name string

Claire Angebault

2

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20 February 2020

Marie Seveno

3

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Naïg Gueguen

4

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Benjamin Chaix

5

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20 February 2020

Guy Bielicki

6

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20 February 2020

Anne-Laure Mausset-Bonnefont

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Chantal Cazevieille

9

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Jean-Pierre Renou

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Jing Wang

12

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Philippe Brabet

14

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Christian P Hamel

16

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20 February 2020

language of work or name

English

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publication date

1 December 2012

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20 February 2020

volume

135

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20 February 2020

issue

Pt 12

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20 February 2020

page(s)

3599-3613

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Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome

20 February 2020

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Characterization of OPA1 isoforms isolated from mouse tissues

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

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Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy

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

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

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Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy

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OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation

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Mitochondrial dynamics--fusion, fission, movement, and mitophagy--in neurodegenerative diseases

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Mitochondrial fusion protects against neurodegeneration in the cerebellum.

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Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice

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

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MARF and Opa1 control mitochondrial and cardiac function in Drosophila

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OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

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Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

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Ageing alters the supramolecular architecture of OxPhos complexes in rat brain cortex.

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OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

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Gait changes precede overt arthritis and strongly correlate with symptoms and histopathological events in pristane-induced arthritis

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

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Identifiers

DOI

10.1093/BRAIN/AWS303

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250881%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

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