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clarify the role of Opa-1 and Drp-1 in mitochondrial dynamics and cell survival, a controversial alpha-synuclein research issue
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This review presents an overview of all recent findings on OPA1 protein functions, on its dysfunction and related clinical phenotypes, focusing on the current therapeutic options and future perspectives to treat dominant optic atrophy and the other associated neurological disorders due to OPA1 mutations. [review]
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Our data indicate that the LEU396ARG mutation in OPA1 is associated with severe dominant optic atrophy.
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OPA1 gene therapy prevents retinal ganglion cell loss in a dominant optic atrophy mouse model.
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We have generated a human iPSC line IISHDOi003-A from fibroblasts of a patient with a dominant optic atrophy 'plus' phenotype, harbouring a heterozygous mutation, c.1635C>A; p.Ser545Arg, in the OPA1 gene.
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OPA1 is a dynamin-related GTPase that controls mitochondrial dynamics, cristae integrity, energetics and mitochondrial DNA maintenance, with eight isoforms being characterized. (Review)
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Reports an assessment of the afferent visual system and OCT examination in an Italian cohort of fifty-two fully penetrant probands affected by Autosomal Dominant Optic Atrophy (ADOA) with OPA1 mutations and eight asymptomatic carriers of OPA1 mutations. Visual acuity and OCT data in missense mutations were compared with those associated with mutations inducing haploinsufficiency, and correlated with age in both groups.
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we propose that the SIRT4-OPA1 axis is causally linked to mitochondrial dysfunction and altered mitochondrial dynamics that translates into aging-associated decreased mitophagy based on an unbalanced mitochondrial fusion/fission cycle.
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Data indicate genotype-phenotype correlations between various types of optic Atrophy 1 (OPA1) mutation and mitophagy.
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The results show that a metabolic shift from glycolysis in young to mitochondrial respiration in old normal human fibroblasts occurs during chronological lifespan, and MFN1 and OPA1 regulate this process.
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Genetic testing identified disease-causing mutations in 34% of referred cases, with the majority of these in OPA1. Patients with mutations in OPA1 were more likely to have a family history of disease; however, 30.4% of patients without a family history were also found to have an OPA1 mutation.
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OPA1 gene mutations were identified in Han Chinese patients with suspected Optic Neuropathy.
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Identification of genomic rearrangements or pathogenic variants of OPA1 is meaningful for disease prognosis and proper genetic counseling in DOA consultation.
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In brown adipocytes indirect evidence support the notion that OPA1 regulation of fission serves to increase thermogenesis, which thereby contributes to dissipation of energy.
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Stabilization of OPA1 impedes cristae remodeling.
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Our combination of proteomics, biochemistry, genetics, and electron tomography provides a unifying model for mammalian cristae biogenesis by OPA1 and MICOS.
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The splice site mutation (c.985G>T) identified in the present study led to exon 10 skipping (c.985_1065del, p.V329_D355del), suggesting loss-of-function of the GTPase domain of the OPA1 protein, which is likely to cause haplo-insufficiency, a major disease mechanism in DOA.
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study identifies a novel pathogenic OPA1 mutation and shows that it is located in the transcript region not prone for NMD activation
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OPA1 gene screening in patients with bilateral optic atrophy is an important part of clinical evaluation as it may establish correct clinical diagnosis
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OPA1 and cardiolipin cooperate in heterotypic mitochondrial inner membrane fusion.
