A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function (Q28289677)

Emanuele Loro

5

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Mario Bortolozzi

Mario Bortolozzi

3

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Christian Frezza

Christian Frezza

12

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Luca Scorrano

Luca Scorrano

15

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Giovanna Cenacchi

Giovanna Cenacchi

10

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Corrado Angelini

Corrado Angelini

14

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author name string

Marco Spinazzi

1

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Silvia Cazzola

2

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Alessandra Baracca

4

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Alberto Casarin

6

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Gianluca Sgarbi

8

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Gabriella Casalena

9

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Adriana Malena

11

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Franco Carrara

13

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Leonardo Salviati

16

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Lodovica Vergani

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

17

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language of work or name

English

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publication date

1 November 2008

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published in

Human Molecular Genetics

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volume

17

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issue

21

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page(s)

3291-302

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cites work

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Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in 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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Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

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

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

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OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

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Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

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

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OPA1 requires mitofusin 1 to promote mitochondrial fusion

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Regulation of mitochondrial morphology through proteolytic cleavage of OPA1

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OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

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

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

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Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

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Critical dependence of neurons on mitochondrial dynamics

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The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head

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

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Effect of oxidative stress on dynamics of mitochondrial reticulum.

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