Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1 [PDF]
Movement Disorders Clinical Practice, 2020 AbstractBackgroundSpinocerebellar ataxia type 1 (SCA‐ATXN1) is an inherited progressive ataxia disorder characterized by an adult‐onset cerebellar syndrome combined with nonataxia signs. Retinal or optic nerve affection are not systematically described.ObjectivesTo describe a retinal phenotype and its functional relevance in SCA‐ATXN1.MethodsWe applied
Frederike Cosima Oertel +12 more
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Spinal Muscular Atrophy Type 1 With Exon 8 Deletion and Bilateral Optic Atrophy [PDF]
Indian Pediatrics, 2020 Bijaylaxmi Behera, Ajay Kumar
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Multi-omics analysis of the oncogenic role of optic atrophy 1 in human cancer. [PDF]
Aging (Albany NY), 2023 To investigate the prognostic significance of optic atrophy 1 (OPA1) in pan-cancer and analyze the relationship between OPA1 and immune infiltration in cancer.OPA1 exhibited high expression levels or mutations in various types of tumor cells, and its expression levels were significantly correlated with the survival rate of tumor patients.
Wu Z +8 more
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Optic atrophy 1 (OPA1) is over-expressed in brain metastatic breast cancer.
, 2020 Preservation of mitochondrial integrity is essential for prevention of cell death (1, 2). Brain metastases are a clinical problem in patients with breast cancer (3-5). We mined published microarray data (6, 7) to discover genes associated with brain metastasis in patients with brain metastatic breast cancer.
Shahan Mamoor
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Atrophy of the optic chiasm is associated with microvascular diabetic complications in type 1 diabetes [PDF]
Frontiers in Endocrinology, 2023 IntroductionDiabetic neuropathy and diabetic eye disease are well known complications of type 1 diabetes. We hypothesized that chronic hyperglycemia also damages the optic tract, which can be measured using routine magnetic resonance imaging. Our aim was to compare morphological differences in the optic tract between individuals with type 1 diabetes ...
Aleksi Tarkkonen +9 more
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The short variant of optic atrophy 1 (OPA1) improves cell survival under oxidative stress. [PDF]
J Biol Chem, 2020 Optic atrophy 1 (OPA1) is a dynamin protein that mediates mitochondrial fusion at the inner membrane. OPA1 is also necessary for maintaining the cristae and thus essential for supporting cellular energetics. OPA1 exists as membrane-anchored long form (L-OPA1) and short form (S-OPA1) that lacks the transmembrane region and is generated by cleavage of L ...
Lee H, Smith SB, Sheu SS, Yoon Y.
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SUN-572 Estrogen Synergistically Interacts with Optic Atrophy Protein 1 to Promote Thrombosis [PDF]
Journal of the Endocrine Society, 2020 Abstract Thrombosis is a major concern in: premenopausal females on oral contraceptives, menopausal women undergoing hormone replacement therapy, post-menopausal women and transgender individuals receiving estrogen supplementation.
Rhonda Souvenir +5 more
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[Bax inhibitor 1 inhibits vascular calcification in mice by activating optic atrophy 1 expression]. [PDF]
Nan Fang Yi Ke Da Xue Xue Bao, 2022 To investigate the effects of Bax inhibitor 1 (BI- 1) and optic atrophy protein 1 (OPA1) on vascular calcification (VC).Mouse models of VC were established in ApoE-deficient (ApoE-/-) diabetic mice by high-fat diet feeding for 12 weeks followed by intraperitoneal injections with Nε-carboxymethyl-lysine for 16 weeks. ApoE-/- mice (control group), ApoE-/-
Chen W +7 more
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Autophagy controls the pathogenicity of
Journal of Cellular and Molecular Medicine, 2017 AbstractOptic Atrophy 1 (OPA1) gene mutations cause diseases ranging from isolated dominant optic atrophy (DOA) to various multisystemic disorders. OPA1, a large GTPase belonging to the dynamin family, is involved in mitochondrial network dynamics.
Mariame Selma Kane +11 more
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