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Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
Sarzi E, Seveno M, Angebault C, Milea D, Rönnbäck C, Quilès M, Adrian M, Grenier J, Caignard A, Lacroux A, Lavergne C, Reynier P, Larsen M, Hamel CP, Delettre C, Lenaers G, Müller A. Sarzi E, et al. Among authors: hamel cp. Hum Mol Genet. 2016 Jun 15;25(12):2539-2551. doi: 10.1093/hmg/ddw117. Epub 2016 Jun 3. Hum Mol Genet. 2016. PMID: 27260406
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Angebault C, et al. Among authors: hamel cp. Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Am J Hum Genet. 2015. PMID: 26593267 Free PMC article.
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G. Gerber S, et al. Among authors: hamel cp. Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219. Brain. 2017. PMID: 28969390
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
Sarzi E, Seveno M, Angebault C, Milea D, Rönnbäck C, Quilès M, Adrian M, Grenier J, Caignard A, Lacroux A, Lavergne C, Reynier P, Larsen M, Hamel CP, Delettre C, Lenaers G, Müller A. Sarzi E, et al. Among authors: hamel cp. Hum Mol Genet. 2017 Dec 1;26(23):4764. doi: 10.1093/hmg/ddx376. Hum Mol Genet. 2017. PMID: 29045675 No abstract available.
Mutation spectrum and splicing variants in the OPA1 gene.
Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel CP. Delettre C, et al. Among authors: hamel cp. Hum Genet. 2001 Dec;109(6):584-91. doi: 10.1007/s00439-001-0633-y. Epub 2001 Oct 30. Hum Genet. 2001. PMID: 11810270
Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.
Kamei S, Chen-Kuo-Chang M, Cazevieille C, Lenaers G, Olichon A, Bélenguer P, Roussignol G, Renard N, Eybalin M, Michelin A, Delettre C, Brabet P, Hamel CP. Kamei S, et al. Among authors: hamel cp. Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4288-94. doi: 10.1167/iovs.03-1407. Invest Ophthalmol Vis Sci. 2005. PMID: 16249510
128 results