Results 41 to 50 of about 15,870 (189)
Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing [PDF]
, 2017 BACKGROUND We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy).
Bartholdi, Deborah +15 more
core +1 more source
The Role of Swelling in the Regulation of OPA1-Mediated Mitochondrial Function in the Heart In Vitro
Cells, 2023 Optic atrophy-1 (OPA1) plays a crucial role in the regulation of mitochondria fusion and participates in maintaining the structural integrity of mitochondrial cristae.
Xavier R. Chapa-Dubocq +5 more
doaj +1 more source
Mitochondrial and Lipid Droplet Dynamics Regulate Intra- and Intercellular Fatty Acid Trafficking
Molecular & Cellular Oncology, 2018 Imaging of fatty acid (FA) trafficking revealed that FAs stored in lipid droplets were delivered to mitochondria when the cells were starved. This delivery required cytoplasmic lipases and mitochondrial fusion activity, whereas lipid droplets were ...
Sarah Cohen +2 more
doaj +1 more source
Cell Death and Disease, 2022 Neuronal mitochondrial dynamics are disturbed after ischemic stroke. Optic atrophy 1 (OPA1) and its GTPase activity are involved in maintaining mitochondrial cristae and inner membrane fusion.
Xiang Li +8 more
doaj +1 more source
Optic Atrophy 1 Controls Human Neuronal Development by Preventing Aberrant Nuclear DNA Methylation
iScience, 2020 Summary: Optic atrophy 1 (OPA1), a GTPase at the inner mitochondrial membrane involved in regulating mitochondrial fusion, stability, and energy output, is known to be crucial for neural development: Opa1 heterozygous mice show abnormal brain development,
Safak Caglayan +15 more
doaj +1 more source
Antioxidants, 2022 Flow (shear stress)-mediated dilation (FMD) of resistance arteries is a rapid endothelial response involved in tissue perfusion. FMD is reduced early in cardiovascular diseases, generating a major risk factor for atherosclerosis.
Ahmad Chehaitly +15 more
doaj +1 more source
Contribution of 3q26-29 gene cluster to glioma invasion [PDF]
, 2015 Diffuse gliomas are the most common and lethal brain tumors. Cell invasion into the surrounding brain tissue is a hallmark feature of glioma. Understanding the mechanism of glioma invasion could lead to the discovery of novel therapeutic strategies to ...
Ramadoss, Archana
core +1 more source
Redox Biology, 2020 Background: Ischemic stroke can induce changes in mitochondrial morphology and function. As a regulatory gene in mitochondria, optic atrophy 1 (OPA1) plays a pivotal role in the regulation of mitochondrial dynamics and other related functions.
Yongxing Lai +11 more
doaj +1 more source
Redox Biology, 2023 During cardiac ischemia-reperfusion, excess reactive oxygen species can damage mitochondrial, cellular and organ function. Here we show that cysteine oxidation of the mitochondrial protein Opa1 contributes to mitochondrial damage and cell death caused by
Martina Semenzato +9 more
doaj +1 more source
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption
Molecular Therapy: Nucleic Acids, 2021 Autosomal dominant optic atrophy (ADOA) is frequently caused by mutations in the optic atrophy 1 (OPA1) gene, with haploinsufficiency being the major genetic pathomechanism. Almost 30% of the OPA1-associated cases suffer from splice defects.
Christoph Jüschke +5 more
doaj +1 more source