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

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

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

http://www.wikidata.org/entity/Q28289677

about

Multi-system neurological disease is common in patients with OPA1 mutations Inner membrane fusion mediates spatial distribution of axonal mitochondria Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis FUS Interacts with HSP60 to Promote Mitochondrial Damage Dominant optic atrophy.Mitochondrial dysfunction and apoptosis in cumulus cells of type I diabetic mice PDE2A2 regulates mitochondria morphology and apoptotic cell death via local modulation of cAMP/PKA signalling Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production.High-dialysate-glucose-induced oxidative stress and mitochondrial-mediated apoptosis in human peritoneal mesothelial cells.Mitochondrial disorders of the nuclear genome Abnormalities of Mitochondrial Dynamics in Neurodegenerative Diseases.Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.Mitochondrial fragmentation leads to intracellular acidification in Caenorhabditis elegans and mammalian cells.Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.Mitochondrial dynamics in Alzheimer's disease: opportunities for future treatment strategies.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Mitochondrial loss, dysfunction and altered dynamics in Huntington's disease The optic nerve: a "mito-window" on mitochondrial neurodegeneration Mitochondrial dysfunction-associated OPA1 cleavage contributes to muscle degeneration: preventative effect of hydroxytyrosol acetate.Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis Mitochondrial dynamics in cancer and neurodegenerative and neuroinflammatory diseases.Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.Mitochondrial OPA1, apoptosis, and heart failure.The role of abnormal mitochondrial dynamics in the pathogenesis of Alzheimer's disease Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics.Mitochondrial dynamic changes in health and genetic diseases.Disturbed mitochondrial dynamics and neurodegenerative disorders.Orexin system is expressed in avian muscle cells and regulates mitochondrial dynamics.Investigating mitochondrial metabolism in contracting HL-1 cardiomyocytes following hypoxia and pharmacological HIF activation identifies HIF-dependent and independent mechanisms of regulation.Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy.Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.Hyperoxia fully protects mitochondria of explanted livers Genotype–phenotype correlations in mitochondrial optic neuropathies Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders

P2860

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P2860

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

http://www.wikidata.org/entity/Q28289677

description

2008 nî lūn-bûn

@nan

2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2008年の論文

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2008年論文

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2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

A novel deletion in the GTPase ...... tribution, but not in function

@ast

A novel deletion in the GTPase ...... tribution, but not in function

@en

A novel deletion in the GTPase ...... tribution, but not in function

@nl

type

label

A novel deletion in the GTPase ...... tribution, but not in function

@ast

A novel deletion in the GTPase ...... tribution, but not in function

@en

A novel deletion in the GTPase ...... tribution, but not in function

@nl

prefLabel

A novel deletion in the GTPase ...... tribution, but not in function

@ast

A novel deletion in the GTPase ...... tribution, but not in function

@en

A novel deletion in the GTPase ...... tribution, but not in function

@nl

P1433

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P1476

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P2860

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P304

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P356

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P407

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P478

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P577

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P5875

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P921

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P3181

P356

P1433

Human Molecular Genetics

P1476

A novel deletion in the GTPase ...... tribution, but not in function

@en

P2093

Adriana Malena

http://www.w3.org/2001/XMLSchema#string

Alberto Casarin

http://www.w3.org/2001/XMLSchema#string

Alessandra Baracca

http://www.w3.org/2001/XMLSchema#string

Franco Carrara

http://www.w3.org/2001/XMLSchema#string

Gabriella Casalena

http://www.w3.org/2001/XMLSchema#string

Gianluca Sgarbi

http://www.w3.org/2001/XMLSchema#string

Leonardo Salviati

http://www.w3.org/2001/XMLSchema#string

Lodovica Vergani

http://www.w3.org/2001/XMLSchema#string

Marco Spinazzi

http://www.w3.org/2001/XMLSchema#string

Silvia Cazzola

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

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

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

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

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

OPA1 requires mitofusin 1 to promote mitochondrial fusion

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

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

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

P304

3291-302

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P31

scholarly article

P3181

2097034

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P356

10.1093/HMG/DDN225

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P407

P433

21

http://www.w3.org/2001/XMLSchema#string

P478

17

http://www.w3.org/2001/XMLSchema#string

P50

Corrado Angelini

Giancarlo Solaini

Christian Frezza

Mario Bortolozzi

Giovanna Cenacchi

P577

2008-11-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

23147876

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P698

18678599

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P921