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MeSH Review

Optic Atrophy, Hereditary, Leber

 
 
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Disease relevance of Optic Atrophy, Hereditary, Leber

 

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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

References

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  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]
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  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]
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  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]
 
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