(Q48248957)

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

20 February 2020

title

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

1 reference

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20 February 2020

1 reference

1

1 reference

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20 February 2020

Nathalie Boddaert

7

1 reference

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20 February 2020

Cécile Delettre

13

1 reference

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20 February 2020

Jean-Luc Puel

15

1 reference

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20 February 2020

Pascal Reynier

17

1 reference

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20 February 2020

Guy Lenaers

18

1 reference

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20 February 2020

10

Valérie Rigau

1 reference

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20 February 2020

author name string

Claire Angebault

2

1 reference

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20 February 2020

Marie Seveno

3

1 reference

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20 February 2020

Naïg Gueguen

4

1 reference

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20 February 2020

Benjamin Chaix

5

1 reference

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20 February 2020

Guy Bielicki

6

1 reference

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20 February 2020

Anne-Laure Mausset-Bonnefont

8

1 reference

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20 February 2020

Chantal Cazevieille

9

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20 February 2020

Jean-Pierre Renou

11

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20 February 2020

Jing Wang

12

1 reference

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20 February 2020

Philippe Brabet

14

1 reference

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20 February 2020

Christian P Hamel

16

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20 February 2020

language of work or name

English

0 references

publication date

1 December 2012

1 reference

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20 February 2020

1 reference

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20 February 2020

volume

135

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20 February 2020

issue

Pt 12

1 reference

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20 February 2020

page(s)

3599-3613

1 reference

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

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

20 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Respiratory active mitochondrial supercomplexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Characterization of OPA1 isoforms isolated from mouse tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Defective brain energy metabolism shown by in vivo 31P MR spectroscopy in 28 patients with mitochondrial cytopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

The creatine kinase/creatine connection to Alzheimer's disease: CK-inactivation, APP-CK complexes and focal creatine deposits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Mitochondrial fusion protects against neurodegeneration in the cerebellum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Mitochondria: commanders of innate immunity and disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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%2FAWS303

MARF and Opa1 control mitochondrial and cardiac function in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Effects of Alzheimer's disease transgenes on neurochemical expression in the mouse brain determined by ¹H MRS in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Cardiolipin biosynthesis and mitochondrial respiratory chain function are interdependent

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Supercomplexes of the mitochondrial electron transport chain decline in the aging rat heart.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Mitochondria and the autophagy-inflammation-cell death axis in organismal aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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%2FAWS303

Cardiolipin and electron transport chain abnormalities in mouse brain tumor mitochondria: lipidomic evidence supporting the Warburg theory of cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Mitochondrial and Cell Death Mechanisms in Neurodegenerative Diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Early alterations of brain cellular energy homeostasis in Huntington disease models

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Mitochondrial dynamics and disease, OPA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Cardiolipin stabilizes respiratory chain supercomplexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Down-regulation of OPA1 alters mouse mitochondrial morphology, PTP function, and cardiac adaptation to pressure overload.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Neuroimaging of mitochondrial disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

Molecular symmetry in mitochondrial cardiolipins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

The complexity of age-related hearing impairment: contributing environmental and genetic factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

In vivo and in vitro assessment of brain bioenergetics in aging rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

'CatWalk' automated quantitative gait analysis as a novel method to assess mechanical allodynia in the rat; a comparison with von Frey testing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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%2FAWS303

Absence of cardiolipin results in temperature sensitivity, respiratory defects, and mitochondrial DNA instability independent of pet56.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

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%2FAWS303

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS303

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWS303

1 reference

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

20 February 2020

1 reference