The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Optic Atrophy, Hereditary, Leber

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Optic Atrophy, Hereditary, Leber


High impact information on Optic Atrophy, Hereditary, Leber


Chemical compound and disease context of Optic Atrophy, Hereditary, Leber


Biological context of Optic Atrophy, Hereditary, Leber


Anatomical context of Optic Atrophy, Hereditary, Leber


Gene context of Optic Atrophy, Hereditary, Leber


Analytical, diagnostic and therapeutic context of Optic Atrophy, Hereditary, Leber


  1. Pre-excitation syndrome in Leber's hereditary optic neuropathy. Nikoskelainen, E.K., Savontaus, M.L., Huoponen, K., Antila, K., Hartiala, J. Lancet (1994) [Pubmed]
  2. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Kirby, D.M., Kahler, S.G., Freckmann, M.L., Reddihough, D., Thorburn, D.R. Ann. Neurol. (2000) [Pubmed]
  3. Secondary metabolic effects in complex I deficiency. Esteitie, N., Hinttala, R., Wibom, R., Nilsson, H., Hance, N., Naess, K., Teär-Fahnehjelm, K., von Döbeln, U., Majamaa, K., Larsson, N.G. Ann. Neurol. (2005) [Pubmed]
  4. Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies. Morrissey, S.P., Borruat, F.X., Miller, D.H., Moseley, I.F., Sweeney, M.G., Govan, G.G., Kelly, M.A., Francis, D.A., Harding, A.E., McDonald, W.I. J. Neurol. Neurosurg. Psychiatr. (1995) [Pubmed]
  5. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Blakely, E.L., de Silva, R., King, A., Schwarzer, V., Harrower, T., Dawidek, G., Turnbull, D.M., Taylor, R.W. Eur. J. Hum. Genet. (2005) [Pubmed]
  6. Remission of Leber's hereditary optic neuropathy with idebenone. Mashima, Y., Hiida, Y., Oguchi, Y. Lancet (1992) [Pubmed]
  7. Thiosulphate-sulphur transferase (rhodanese) deficiency in Leber's hereditary optic atrophy. Cagianut, B., Rhyner, K., Furrier, W., Schnebli, H.P. Lancet (1981) [Pubmed]
  8. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Carelli, V., Giordano, C., d'Amati, G. Trends Genet. (2003) [Pubmed]
  9. Lack of assembly of mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase and loss of enzyme activity in a human cell mutant lacking the mitochondrial ND4 gene product. Hofhaus, G., Attardi, G. EMBO J. (1993) [Pubmed]
  10. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. De Vries, D.D., Went, L.N., Bruyn, G.W., Scholte, H.R., Hofstra, R.M., Bolhuis, P.A., van Oost, B.A. Am. J. Hum. Genet. (1996) [Pubmed]
  11. Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis. Kim, J.Y., Hwang, J.M., Park, S.S. Ann. Neurol. (2002) [Pubmed]
  12. Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium. Ghelli, A., Zanna, C., Porcelli, A.M., Schapira, A.H., Martinuzzi, A., Carelli, V., Rugolo, M. J. Biol. Chem. (2003) [Pubmed]
  13. Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). Pilz, D., Quarrell, O.W., Jones, E.W. J. Med. Genet. (1994) [Pubmed]
  14. Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids. Baracca, A., Solaini, G., Sgarbi, G., Lenaz, G., Baruzzi, A., Schapira, A.H., Martinuzzi, A., Carelli, V. Arch. Neurol. (2005) [Pubmed]
  15. Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy. Montagna, P., Plazzi, G., Cortelli, P., Carelli, V., Lugaresi, E., Barboni, P., Fiocchi, M. J. Neurol. Neurosurg. Psychiatr. (1995) [Pubmed]
  16. Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON). Johns, D.R., Neufeld, M.J. Am. J. Hum. Genet. (1993) [Pubmed]
  17. An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene. Howell, N., McCullough, D. Am. J. Hum. Genet. (1990) [Pubmed]
  18. The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates. Howell, N., Smejkal, C.B., Mackey, D.A., Chinnery, P.F., Turnbull, D.M., Herrnstadt, C. Am. J. Hum. Genet. (2003) [Pubmed]
  19. Mitochondrial DNA and genetic disease. Poulton, J. Bioessays (1992) [Pubmed]
  20. The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity. Cock, H.R., Cooper, J.M., Schapira, A.H. Am. J. Hum. Genet. (1995) [Pubmed]
  21. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Jun, A.S., Brown, M.D., Wallace, D.C. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  22. Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis. Danielson, S.R., Wong, A., Carelli, V., Martinuzzi, A., Schapira, A.H., Cortopassi, G.A. J. Biol. Chem. (2002) [Pubmed]
  23. Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. Lodi, R., Carelli, V., Cortelli, P., Iotti, S., Valentino, M.L., Barboni, P., Pallotti, F., Montagna, P., Barbiroli, B. J. Neurol. Neurosurg. Psychiatr. (2002) [Pubmed]
  24. Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy. Majander, A., Finel, M., Savontaus, M.L., Nikoskelainen, E., Wikström, M. Eur. J. Biochem. (1996) [Pubmed]
  25. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Howell, N., Oostra, R.J., Bolhuis, P.A., Spruijt, L., Clarke, L.A., Mackey, D.A., Preston, G., Herrnstadt, C. Am. J. Hum. Genet. (2003) [Pubmed]
  26. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Howell, N., Bindoff, L.A., McCullough, D.A., Kubacka, I., Poulton, J., Mackey, D., Taylor, L., Turnbull, D.M. Am. J. Hum. Genet. (1991) [Pubmed]
  27. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Chinnery, P.F., Brown, D.T., Andrews, R.M., Singh-Kler, R., Riordan-Eva, P., Lindley, J., Applegarth, D.A., Turnbull, D.M., Howell, N. Brain (2001) [Pubmed]
  28. Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset. Ishikawa, K., Funayama, T., Ohde, H., Inagaki, Y., Mashima, Y. Jpn. J. Ophthalmol. (2005) [Pubmed]
  29. Gene therapy for optic nerve disease. Martin, K.R., Quigley, H.A. Eye (London, England) (2004) [Pubmed]
  30. Scanning laser ophthalmoscopy as a tool for detecting atrophy of the central retinal nerve fibre layer in Leber's hereditary optic neuropathy. Lindblom, B., Bond-Taylor, L. Acta ophthalmologica Scandinavica. (1998) [Pubmed]
WikiGenes - Universities