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MeSH Review

Optic Atrophy, Autosomal Dominant

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Disease relevance of Optic Atrophy, Autosomal Dominant


High impact information on Optic Atrophy, Autosomal Dominant


Chemical compound and disease context of Optic Atrophy, Autosomal Dominant


Biological context of Optic Atrophy, Autosomal Dominant


Anatomical context of Optic Atrophy, Autosomal Dominant


Gene context of Optic Atrophy, Autosomal Dominant


  1. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Züchner, S., De Jonghe, P., Jordanova, A., Claeys, K.G., Guergueltcheva, V., Cherninkova, S., Hamilton, S.R., Van Stavern, G., Krajewski, K.M., Stajich, J., Tournev, I., Verhoeven, K., Langerhorst, C.T., de Visser, M., Baas, F., Bird, T., Timmerman, V., Shy, M., Vance, J.M. Ann. Neurol. (2006) [Pubmed]
  2. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Delettre, C., Lenaers, G., Pelloquin, L., Belenguer, P., Hamel, C.P. Mol. Genet. Metab. (2002) [Pubmed]
  3. LHON and other optic nerve atrophies: the mitochondrial connection. Howell, N. Developments in ophthalmology. (2003) [Pubmed]
  4. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. Eiberg, H., Hansen, L., Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T., Tranebjaerg, L. J. Med. Genet. (2006) [Pubmed]
  5. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Delettre, C., Lenaers, G., Griffoin, J.M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc-Carel, C., Perret, E., Astarie-Dequeker, C., Lasquellec, L., Arnaud, B., Ducommun, B., Kaplan, J., Hamel, C.P. Nat. Genet. (2000) [Pubmed]
  6. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Alexander, C., Votruba, M., Pesch, U.E., Thiselton, D.L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S.S., Wissinger, B. Nat. Genet. (2000) [Pubmed]
  7. OPA1 requires mitofusin 1 to promote mitochondrial fusion. Cipolat, S., Martins de Brito, O., Dal Zilio, B., Scorrano, L. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  8. Linkage analysis in dominant optic atrophy. Kivlin, J.D., Lovrien, E.W., Bishop, D.T., Maumenee, I.H. Am. J. Hum. Genet. (1983) [Pubmed]
  9. Mitochondrial dysfunction as a cause of optic neuropathies. Carelli, V., Ross-Cisneros, F.N., Sadun, A.A. Progress in retinal and eye research. (2004) [Pubmed]
  10. MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy. Votruba, M., Leary, S., Losseff, N., Bhattacharya, S.S., Moore, A.T., Miller, D.H., Moseley, I.F. Neuroradiology. (2000) [Pubmed]
  11. Update on hereditary optic neuropathy. Yen, M.T., Lam, B.L. Seminars in ophthalmology. (1999) [Pubmed]
  12. No evidence of genetic heterogeneity in dominant optic atrophy. Bonneau, D., Souied, E., Gerber, S., Rozet, J.M., D'Haens, E., Journel, H., Plessis, G., Weissenbach, J., Munnich, A., Kaplan, J. J. Med. Genet. (1995) [Pubmed]
  13. Mutation spectrum and splicing variants in the OPA1 gene. Delettre, C., Griffoin, J.M., Kaplan, J., Dollfus, H., Lorenz, B., Faivre, L., Lenaers, G., Belenguer, P., Hamel, C.P. Hum. Genet. (2001) [Pubmed]
  14. OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. Han, J., Thompson-Lowrey, A.J., Reiss, A., Mayorov, V., Jia, H., Biousse, V., Newman, N.J., Brown, M.D. Genet. Med. (2006) [Pubmed]
  15. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Amati-Bonneau, P., Odent, S., Derrien, C., Pasquier, L., Malthiéry, Y., Reynier, P., Bonneau, D. Am. J. Ophthalmol. (2003) [Pubmed]
  16. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Baris, O., Delettre, C., Amati-Bonneau, P., Surget, M.O., Charlin, J.F., Catier, A., Derieux, L., Guyomard, J.L., Dollfus, H., Jonveaux, P., Ayuso, C., Maumenee, I., Lorenz, B., Mohammed, S., Tourmen, Y., Bonneau, D., Malthièry, Y., Hamel, C., Reynier, P. Hum. Mutat. (2003) [Pubmed]
  17. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. Olichon, A., Baricault, L., Gas, N., Guillou, E., Valette, A., Belenguer, P., Lenaers, G. J. Biol. Chem. (2003) [Pubmed]
  18. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. Reynier, P., Amati-Bonneau, P., Verny, C., Olichon, A., Simard, G., Guichet, A., Bonnemains, C., Malecaze, F., Malinge, M.C., Pelletier, J.B., Calvas, P., Dollfus, H., Belenguer, P., Malthièry, Y., Lenaers, G., Bonneau, D. J. Med. Genet. (2004) [Pubmed]
  19. Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1). Stöhr, H., Klein, J., Gehrig, A., Koehler, M.R., Jurklies, B., Kellner, U., Leo-Kottler, B., Schmid, M., Weber, B.H. Hum. Genet. (1999) [Pubmed]
  20. Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. Votruba, M., Payne, A., Moore, A.T., Bhattacharya, S.S. Mamm. Genome (1998) [Pubmed]
  21. Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology. Misaka, T., Miyashita, T., Kubo, Y. J. Biol. Chem. (2002) [Pubmed]
  22. 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, C.P. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
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