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Items: 1 to 20 of 241

1.

OPA1: How much do we know to approach therapy?

Del Dotto V, Fogazza M, Lenaers G, Rugolo M, Carelli V, Zanna C.

Pharmacol Res. 2018 May;131:199-210. doi: 10.1016/j.phrs.2018.02.018. Epub 2018 Feb 15. Review.

PMID:
29454676
2.

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.

Sarzi E, Seveno M, Piro-Mégy C, Elzière L, Quilès M, Péquignot M, Müller A, Hamel CP, Lenaers G, Delettre C.

Sci Rep. 2018 Feb 6;8(1):2468. doi: 10.1038/s41598-018-20838-8.

3.

Eight human OPA1 isoforms, long and short: What are they for?

Del Dotto V, Fogazza M, Carelli V, Rugolo M, Zanna C.

Biochim Biophys Acta Bioenerg. 2018 Apr;1859(4):263-269. doi: 10.1016/j.bbabio.2018.01.005. Epub 2018 Jan 31. Review.

PMID:
29382469
4.

A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree.

Schnieders MJ, Goar W, Griess M, Roos BR, Scheetz TE, Stone EM, Fingert JH.

Eye (Lond). 2018 Apr;32(4):843-845. doi: 10.1038/eye.2017.303. Epub 2018 Jan 19. No abstract available.

PMID:
29350691
5.

Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.

Pretegiani E, Rosini F, Rufa A, Gallus GN, Cardaioli E, Da Pozzo P, Bianchi S, Serchi V, Collura M, Franceschini R, Bianchi Marzoli S, Dotti MT, Federico A.

J Neurol Sci. 2017 Nov 15;382:29-35. doi: 10.1016/j.jns.2017.09.018. Epub 2017 Sep 14.

PMID:
29111013
6.

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.

Zurita-Díaz F, Galera-Monge T, Moreno-Izquierdo A, Corton M, Ayuso C, Garesse R, Gallardo ME.

Stem Cell Res. 2017 Oct;24:81-84. doi: 10.1016/j.scr.2017.08.017. Epub 2017 Aug 19.

7.

Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.

Gaier ED, Boudreault K, Nakata I, Janessian M, Skidd P, DelBono E, Allen KF, Pasquale LR, Place E, Cestari DM, Stacy RC, Rizzo JF 3rd, Wiggs JL.

Mol Vis. 2017 Aug 10;23:548-560. eCollection 2017.

8.

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

Ścieżyńska A, Ruszkowska E, Szulborski K, Rydz K, Wierzbowska J, Kosińska J, Rękas M, Płoski R, Szaflik JP, Ołdak M.

PLoS One. 2017 Aug 25;12(8):e0183866. doi: 10.1371/journal.pone.0183866. eCollection 2017.

9.

Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.

Hayashi T, Sasano H, Katagiri S, Tsunoda K, Kameya S, Nakazawa M, Iwata T, Tsuneoka H.

Jpn J Ophthalmol. 2017 Sep;61(5):395-401. doi: 10.1007/s10384-017-0522-0. Epub 2017 Jul 1.

PMID:
28668999
10.

Molecular basis of selective mitochondrial fusion by heterotypic action between OPA1 and cardiolipin.

Ban T, Ishihara T, Kohno H, Saita S, Ichimura A, Maenaka K, Oka T, Mihara K, Ishihara N.

Nat Cell Biol. 2017 Jul;19(7):856-863. doi: 10.1038/ncb3560. Epub 2017 Jun 19.

PMID:
28628083
11.

OPA1 in Lipid Metabolism: Function of OPA1 in Lipolysis and Thermogenesis of Adipocytes.

Chu DT, Tao Y, Taskén K.

Horm Metab Res. 2017 Apr;49(4):276-285. doi: 10.1055/s-0043-100384. Epub 2017 Apr 20. Review.

PMID:
28427098
12.

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.

Kane MS, Alban J, Desquiret-Dumas V, Gueguen N, Ishak L, Ferre M, Amati-Bonneau P, Procaccio V, Bonneau D, Lenaers G, Reynier P, Chevrollier A.

J Cell Mol Med. 2017 Oct;21(10):2284-2297. doi: 10.1111/jcmm.13149. Epub 2017 Apr 4.

13.

The short variant of the mitochondrial dynamin OPA1 maintains mitochondrial energetics and cristae structure.

Lee H, Smith SB, Yoon Y.

J Biol Chem. 2017 Apr 28;292(17):7115-7130. doi: 10.1074/jbc.M116.762567. Epub 2017 Mar 15.

14.

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.

Bolognini R, Gerth-Kahlert C, Abegg M, Bartholdi D, Mathis N, Sturm V, Gallati S, Schaller A.

BMC Med Genet. 2017 Feb 28;18(1):22. doi: 10.1186/s12881-017-0383-x.

15.

L-OPA1 regulates mitoflash biogenesis independently from membrane fusion.

Rosselin M, Santo-Domingo J, Bermont F, Giacomello M, Demaurex N.

EMBO Rep. 2017 Mar;18(3):451-463. doi: 10.15252/embr.201642931. Epub 2017 Feb 7.

16.

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.

Majander A, João C, Rider AT, Henning GB, Votruba M, Moore AT, Yu-Wai-Man P, Stockman A.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):502-516. doi: 10.1167/iovs.16-20309.

17.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J.

Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.

18.

OPA1 analysis in an international series of probands with bilateral optic atrophy.

Liskova P, Tesarova M, Dudakova L, Svecova S, Kolarova H, Honzik T, Seto S, Votruba M.

Acta Ophthalmol. 2017 Jun;95(4):363-369. doi: 10.1111/aos.13285. Epub 2016 Nov 17.

19.

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

Loo JL, Singhal S, Rukmini AV, Tow S, Amati-Bonneau P, Procaccio V, Bonneau D, Gooley JJ, Reynier P, Ferré M, Milea D.

Eye (Lond). 2017 Mar;31(3):475-480. doi: 10.1038/eye.2016.255. Epub 2016 Nov 18.

20.

Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation.

Chun BY, Rizzo JF 3rd.

Curr Opin Ophthalmol. 2016 Nov;27(6):475-480. Review.

PMID:
27585216

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