Results 1 to 10 of about 90,472 (178)

Optic Atrophy 1 Controls Human Neuronal Development by Preventing Aberrant Nuclear DNA Methylation [PDF]

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, Adnan Hashim, Artur Cieslar-Pobuda, Vidar Jensen, Sidney Behringer, Burcu Talug, Dinh Toi Chu, Christian Pecquet, Marie Rogne, Andreas Brech, Sverre Henning Brorson, Erlend Arnulf Nagelhus, Luciana Hannibal, Antonella Boschi, Kjetil Taskén, Judith Staerk   +15 more
doaj   +4 more sources

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)

Stem Cell Research, 2016
Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM ...
Stefan Hauser, Stefanie Schuster, Yvonne Theurer, Matthis Synofzik, Ludger Schöls   +4 more
doaj   +2 more sources

Oxidization of optic atrophy 1 cysteines occurs during heart ischemia-reperfusion and amplifies cell death by oxidative stress. [PDF]

Redox Biol, 2023
Semenzato M, Kohr MJ, Quirin C, Menabò R, Alanova P, Alan L, Pellattiero A, Murphy E, Di Lisa F, Scorrano L.   +9 more
europepmc   +2 more sources

The relationship between optic atrophy 1 polymorphism and normal tension glaucoma in Taiwan

Taiwan Journal of Ophthalmology, 2018
PURPOSE: The purpose of this research is to evaluate the relationship between of optic atrophy 1 (OPA1) polymorphism and normal tension glaucoma (NTG) by surveying patients from central Taiwan. This study finding could help us to understand the impact of
Yan-Ting Chen, San-Ni Chen, Chin-San Liu
doaj   +2 more sources

[Long noncoding RNA H19 promotes vascular calcification by repressing the Bax inhibitor 1/optic atrophy 1 pathway]. [PDF]

Nan Fang Yi Ke Da Xue Xue Bao, 2023
Chen W, DU H, Sha Y, Zhou Y, Liang J, Chen Y, Ma Q, Wu X, Qian G.   +8 more
europepmc   +3 more sources

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review. [PDF]

Genes (Basel), 2022
Othman BA, Ong JE, Dumitrescu AV.
europepmc   +3 more sources

High-fat diet causes mitochondrial damage and downregulation of mitofusin-2 and optic atrophy-1 in multiple organs. [PDF]

J Clin Biochem Nutr, 2023
Zheng P, Ma W, Gu Y, Wu H, Bian Z, Liu N, Yang D, Chen X.   +7 more
europepmc   +3 more sources

Mitofusin 1 and optic atrophy 1 shift metabolism to mitochondrial respiration during aging. [PDF]

Aging Cell, 2017
Son JM, Sarsour EH, Kakkerla Balaraju A, Fussell J, Kalen AL, Wagner BA, Buettner GR, Goswami PC.   +7 more
europepmc   +3 more sources

The cristae modulator Optic atrophy 1 requires mitochondrial ATP synthase oligomers to safeguard mitochondrial function. [PDF]

Nat Commun, 2018
Quintana-Cabrera R, Quirin C, Glytsou C, Corrado M, Urbani A, Pellattiero A, Calvo E, Vázquez J, Enríquez JA, Gerle C, Soriano ME, Bernardi P, Scorrano L.   +12 more
europepmc   +3 more sources

Optic atrophy 1 mediates muscle differentiation by promoting a metabolic switch via the supercomplex assembly factor SCAF1. [PDF]

iScience
Triolo M, Baker N, Agarwal S, Larionov N, Podinić T, Khacho M.   +5 more
europepmc   +2 more sources