(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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

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%2FHMG%2FDDN225

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%2FHMG%2FDDN225

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

eOPA1: an online database for OPA1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

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%2FHMG%2FDDN225

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

OPA1 requires mitofusin 1 to promote mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Regulation of mitochondrial morphology through proteolytic cleavage of OPA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

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%2FHMG%2FDDN225

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%2FHMG%2FDDN225

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Bioenergetics of mitochondrial diseases associated with mtDNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Optic neuropathies--importance of spatial distribution of mitochondria as well as function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Critical dependence of neurons on mitochondrial dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Mitochondrial clustering induced by overexpression of the mitochondrial fusion protein Mfn2 causes mitochondrial dysfunction and cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Effect of oxidative stress on dynamics of mitochondrial reticulum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Mitochondria: dynamic organelles in disease, aging, and development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Orchestration of lymphocyte chemotaxis by mitochondrial dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Structural basis of mitochondrial tethering by mitofusin complexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Decreased fatty acid beta-oxidation in riboflavin-responsive, multiple acylcoenzyme A dehydrogenase-deficient patients is associated with an increase in uncoupling protein-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

L-carnitine uptake in differentiating human cultured muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Evaluating mitochondrial membrane potential in cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225

The selective detection of mitochondrial superoxide by live cell imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN225