Mutation spectrum and splicing variants in the OPA1 gene
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The effect of OPA1 on mitochondrial Ca²⁺ signalingOPA1 requires mitofusin 1 to promote mitochondrial fusionNew insights into the role of mitochondria in aging: mitochondrial dynamics and moreGene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locusMitochondrial morphology-emerging role in bioenergeticsProhibitins role in cellular survival through Ras-Raf-MEK-ERK pathwayMorphological control of mitochondrial bioenergeticsThe human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane spaceThe i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fissionCell biology. Metabolic control of cell deathRegulation of mitochondrial morphology through proteolytic cleavage of OPA1Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1Mitochondrial dynamics and apoptosisA recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese familyMitochondrial 'kiss-and-run': interplay between mitochondrial motility and fusion-fission dynamics.Impaired OMA1-dependent cleavage of OPA1 and reduced DRP1 fission activity combine to prevent mitophagy in cells that are dependent on oxidative phosphorylation.Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.Proteolytic cleavage of Opa1 stimulates mitochondrial inner membrane fusion and couples fusion to oxidative phosphorylation.Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophyMitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.OPA1 expression in the normal rat retina and optic nerveHigd-1a interacts with Opa1 and is required for the morphological and functional integrity of mitochondriaDominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.Morphological dynamics of mitochondria--a special emphasis on cardiac muscle cells.Mitochondrial dynamics in diabetes.Mitochondrial dysfunction-associated OPA1 cleavage contributes to muscle degeneration: preventative effect of hydroxytyrosol acetate.Optic disc morphology of patients with OPA1 autosomal dominant optic atrophyMitochondrial dysregulation in the pathogenesis of diabetes: potential for mitochondrial biogenesis-mediated interventions.Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models.The emerging roles of prohibitins in folliculogenesisImplications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.The role of the Met98Lys optineurin variant in inherited optic nerve diseasesMolecular genetic basis of primary inherited optic neuropathies.OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria.OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L.Mitochondrial Optic Atrophy (OPA) 1 Processing Is Altered in Response to Neonatal Hypoxic-Ischemic Brain Injury.Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicingEmerging functions of mammalian mitochondrial fusion and fission.
P2860
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P2860
Mutation spectrum and splicing variants in the OPA1 gene
description
2001 nî lūn-bûn
@nan
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutation spectrum and splicing variants in the OPA1 gene
@ast
Mutation spectrum and splicing variants in the OPA1 gene
@en
Mutation spectrum and splicing variants in the OPA1 gene
@nl
type
label
Mutation spectrum and splicing variants in the OPA1 gene
@ast
Mutation spectrum and splicing variants in the OPA1 gene
@en
Mutation spectrum and splicing variants in the OPA1 gene
@nl
prefLabel
Mutation spectrum and splicing variants in the OPA1 gene
@ast
Mutation spectrum and splicing variants in the OPA1 gene
@en
Mutation spectrum and splicing variants in the OPA1 gene
@nl
P2093
P3181
P1433
P1476
Mutation spectrum and splicing variants in the OPA1 gene
@en
P2093
C Delettre
J M Griffoin
P Belenguer
P2888
P304
P3181
P356
10.1007/S00439-001-0633-Y
P407
P577
2001-12-01T00:00:00Z
P6179
1016596732