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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The effect of OPA1 on mitochondrial Ca²⁺ signalingA mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvementSIRT3 deacetylates and activates OPA1 to regulate mitochondrial dynamics during stressMulti-system neurological disease is common in patients with OPA1 mutationsMitochondrial disease in adults: what's old and what's new?Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityQuality matters: how does mitochondrial network dynamics and quality control impact on mtDNA integrity?Why mitochondria must fuse to maintain their genome integrityMitochondrial genome changes and neurodegenerative diseasesMitochondrial involvement in neurodegenerative diseasesOpa1 is required for proper mitochondrial metabolism in early developmentA neurodegenerative perspective on mitochondrial optic neuropathiesOPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.Syndromic parkinsonism and dementia associated with OPA1 missense mutationsMitochondrial fragmentation in neurodegenerationA novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in functionMutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansSpastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsMitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg LectureHistorical perspective on mitochondrial medicineMitochondrial dynamics--fusion, fission, movement, and mitophagy--in neurodegenerative diseasesA recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese familyMutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceDominant optic atrophy.Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion.OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulationImproved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease.Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production.Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsControl of mitochondrial integrity in ageing and diseaseMitochondrial disorders and the eye.Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkThe clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations.Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.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 optic neuropathies - disease mechanisms and therapeutic strategies.
P2860
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P2860
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Mutation of OPA1 causes domina ...... disorder of mtDNA maintenance.
@en
Mutation of OPA1 causes domina ...... disorder of mtDNA maintenance.
@nl
type
label
Mutation of OPA1 causes domina ...... disorder of mtDNA maintenance.
@en
Mutation of OPA1 causes domina ...... disorder of mtDNA maintenance.
@nl
prefLabel
Mutation of OPA1 causes domina ...... disorder of mtDNA maintenance.
@en
Mutation of OPA1 causes domina ...... disorder of mtDNA maintenance.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutation of OPA1 causes domina ...... disorder of mtDNA maintenance
@en
P2093
Anu Suomalainen
Douglass M Turnbull
Emma L Blakely
Gavin Hudson
Joanna D Stewart
Kati Ahlqvist
Langping He
Patrick F Chinnery
Patrizia Amati-Bonneau
Philip G Griffiths
P2860
P304
P356
10.1093/BRAIN/AWM272
P407
P577
2007-12-07T00:00:00Z