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Generation and analysis of OPA1 (optic atrophy 1)-deficient mice
2007Optische Atrophie 1 (OPA1) ist eine Dynamin-verwandte GTPase, die in die Mitochondrien importiert wird. Mutationen im OPA1 Gen führen zur Erblindung in Patienten mit autosomal dominant erblicher Optikusatrophie (adOA). Als Pathomechanismus für die adOA wurde Haploinsuffizienz postuliert, die zu einem Verlust an retinalen Ganglienzellen führt und in ...
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International Journal of Biological Macromolecules
Mitochondrial dynamics homeostasis is sustained by continuous and balanced fission and fusion, which are determinants of morphology, abundance, biogenesis and mitophagy of mitochondria. Optic atrophy 1 (OPA1), as the only inner mitochondrial membrane fusion protein, plays a key role in stabilizing mitochondrial dynamics.
Bi-Feng, Yao, Xiu-Ju, Luo, Jun, Peng
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Mitochondrial dynamics homeostasis is sustained by continuous and balanced fission and fusion, which are determinants of morphology, abundance, biogenesis and mitophagy of mitochondria. Optic atrophy 1 (OPA1), as the only inner mitochondrial membrane fusion protein, plays a key role in stabilizing mitochondrial dynamics.
Bi-Feng, Yao, Xiu-Ju, Luo, Jun, Peng
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Blood, 2016
Abstract Cardiovascular diseases (CVD) are the leading cause of death in the United States. Thrombosis represents one of the most common underlying pathologies in CVD and disproportionately plagues females. Analyses of transcripts from the Framingham offspring cohort, revealed enrichment in transcripts encoding for the mitochondrial ...
Rhonda Souvenir +6 more
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Abstract Cardiovascular diseases (CVD) are the leading cause of death in the United States. Thrombosis represents one of the most common underlying pathologies in CVD and disproportionately plagues females. Analyses of transcripts from the Framingham offspring cohort, revealed enrichment in transcripts encoding for the mitochondrial ...
Rhonda Souvenir +6 more
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Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition?: Figure 1
Journal of Medical Genetics, 1999A mother and daughter are reported with bilateral optic atrophy with onset in infancy and unilateral facial palsy. This appears to be a novel autosomal dominant disorder.
A P J Thomson, M Neugebauer, A Fryer
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A Novel Mutation of the Type 1 Optic Atrophy (OPA1) Gene in a Japanese Family with OPA1
Japanese Journal of Ophthalmology, 2003Purpose : To report a novel mutation of the typel optic atrophy(OPA1) gene in a Japanese family with OPA1 and to describe the clinical features of this family. Methods : Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations.
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The American Journal of Pathology
Ameloblastoma (AM), a locally aggressive odontogenic tumor, exhibits elusive pathogenesis. Here, optic atrophy 1 (OPA1)-mediated mitochondrial hyperfusion was identified as a driver of tumor stemness and progression. Single-cell transcriptomics of primary AM specimens revealed mitochondrial fusionHigh epithelial subpopulations exhibiting enriched ...
Jia-Jie, Liang +6 more
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Ameloblastoma (AM), a locally aggressive odontogenic tumor, exhibits elusive pathogenesis. Here, optic atrophy 1 (OPA1)-mediated mitochondrial hyperfusion was identified as a driver of tumor stemness and progression. Single-cell transcriptomics of primary AM specimens revealed mitochondrial fusionHigh epithelial subpopulations exhibiting enriched ...
Jia-Jie, Liang +6 more
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[A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1].
Nippon Ganka Gakkai zasshi, 2002To report a novel mutation of the type1 optic atrophy(OPA1) gene in a Japanese family with OPA1 and to describe the clinical features of this family.Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations.The proband and his ...
Satoko, Shimizu +5 more
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Prevalence and Associations of Nonglaucomatous Optic Nerve Atrophy in High Myopia
Ophthalmology, 2023Gyulli Kazakbaeva +2 more
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Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption
Molecular Therapy - Nucleic Acids, 2021Christoph Jüschke +2 more
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