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OPA1 Modulates Mitochondrial Ca2+ Uptake Through ER-Mitochondria Coupling.
Cartes-Saavedra B, Macuada J, Lagos D, Arancibia D, Andrés ME, Yu-Wai-Man P, Hajnóczky G, Eisner V. Cartes-Saavedra B, et al. Front Cell Dev Biol. 2022 Jan 3;9:774108. doi: 10.3389/fcell.2021.774108. eCollection 2021. Front Cell Dev Biol. 2022. PMID: 35047497 Free PMC article.
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P. Spiegel R, et al. J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11. J Med Genet. 2016. PMID: 26561570 Free PMC article.
A multiple sclerosis-like disorder in patients with OPA1 mutations.
Yu-Wai-Man P, Spyropoulos A, Duncan HJ, Guadagno JV, Chinnery PF. Yu-Wai-Man P, et al. Ann Clin Transl Neurol. 2016 Jul 19;3(9):723-9. doi: 10.1002/acn3.323. eCollection 2016 Sep. Ann Clin Transl Neurol. 2016. PMID: 27656661 Free PMC article.
Dominant optic atrophy: Culprit mitochondria in the optic nerve.
Lenaers G, Neutzner A, Le Dantec Y, Jüschke C, Xiao T, Decembrini S, Swirski S, Kieninger S, Agca C, Kim US, Reynier P, Yu-Wai-Man P, Neidhardt J, Wissinger B. Lenaers G, et al. Prog Retin Eye Res. 2021 Jul;83:100935. doi: 10.1016/j.preteyeres.2020.100935. Epub 2020 Dec 17. Prog Retin Eye Res. 2021. PMID: 33340656 Free article. Review.
229 results