Gene Review:
MT-ND6 - mitochondrially encoded NADH dehydrogenase 6
Homo sapiens
Synonyms:
MTND6, NAD6, NADH dehydrogenase subunit 6, NADH dehydrogenase, subunit 6 (complex I), NADH-ubiquinone oxidoreductase chain 6, ...
- 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)
- Altered mitochondrial RNA production in adipocytes from HIV-infected individuals with lipodystrophy. Galluzzi, L., Pinti, M., Guaraldi, G., Mussini, C., Troiano, L., Roat, E., Giovenzana, C., Nemes, E., Nasi, M., Orlando, G., Salomoni, P., Cossarizza, A. Antivir. Ther. (Lond.) (2005)
- Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ugalde, C., Triepels, R.H., Coenen, M.J., van den Heuvel, L.P., Smeets, R., Uusimaa, J., Briones, P., Campistol, J., Majamaa, K., Smeitink, J.A., Nijtmans, L.G. Ann. Neurol. (2003)
- Characterization of the membrane domain subunit NuoJ (ND6) of the NADH-quinone oxidoreductase from Escherichia coli by chromosomal DNA manipulation. Kao, M.C., Di Bernardo, S., Nakamaru-Ogiso, E., Miyoshi, H., Matsuno-Yagi, A., Yagi, T. Biochemistry (2005)
- Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection. Elson, J.L., Turnbull, D.M., Howell, N. Am. J. Hum. Genet. (2004)
- Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Coskun, P.E., Beal, M.F., Wallace, D.C. Proc. Natl. Acad. Sci. U.S.A. (2004)
- 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)
- 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)
- 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)
- Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. Leo-Kottler, B., Christ-Adler, M., Baumann, B., Zrenner, E., Wissinger, B. German journal of ophthalmology. (1996)
- Identification of a new human mtDNA polymorphism (A14290G) in the NADH dehydrogenase subunit 6 gene. Houshmand, M., Mahmoudi, T., Panahi, M.S., Seyedena, Y., Saber, S., Ataei, M. Braz. J. Med. Biol. Res. (2006)
- An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Johns, D.R., Neufeld, M.J., Park, R.D. Biochem. Biophys. Res. Commun. (1992)
- The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. Guan, M.X., Enriquez, J.A., Fischel-Ghodsian, N., Puranam, R.S., Lin, C.P., Maw, M.A., Attardi, G. Mol. Cell. Biol. (1998)
- Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Kirby, D.M., Boneh, A., Chow, C.W., Ohtake, A., Ryan, M.T., Thyagarajan, D., Thorburn, D.R. Ann. Neurol. (2003)
- Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy. Wissinger, B., Besch, D., Baumann, B., Fauser, S., Christ-Adler, M., Jurklies, B., Zrenner, E., Leo-Kottler, B. Biochem. Biophys. Res. Commun. (1997)
- The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain. Oostra, R.J., Van Galen, M.J., Bolhuis, P.A., Bleeker-Wagemakers, E.M., Van den Bogert, C. Biochem. Biophys. Res. Commun. (1995)
- An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Ravn, K., Wibrand, F., Hansen, F.J., Horn, N., Rosenberg, T., Schwartz, M. Eur. J. Hum. Genet. (2001)
- Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Jun, A.S., Trounce, I.A., Brown, M.D., Shoffner, J.M., Wallace, D.C. Mol. Cell. Biol. (1996)
- Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Carelli, V., Ghelli, A., Bucchi, L., Montagna, P., De Negri, A., Leuzzi, V., Carducci, C., Lenaz, G., Lugaresi, E., Degli Esposti, M. Ann. Neurol. (1999)
- Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome. Ota, Y., Tanaka, M., Sato, W., Ohno, K., Yamamoto, T., Maehara, M., Negoro, T., Watanabe, K., Awaya, S., Ozawa, T. Invest. Ophthalmol. Vis. Sci. (1991)
- The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. Valentino, M.L., Barboni, P., Ghelli, A., Bucchi, L., Rengo, C., Achilli, A., Torroni, A., Lugaresi, A., Lodi, R., Barbiroli, B., Dotti, M., Federico, A., Baruzzi, A., Carelli, V. Ann. Neurol. (2004)
- 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)
- Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy. Sudoyo, H., Suryadi, H., Lertrit, P., Pramoonjago, P., Lyrawati, D., Marzuki, S. J. Hum. Genet. (2002)
- Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction. Lertrit, P., Kapsa, R.M., Jean-Francois, M.J., Thyagarajan, D., Noer, A.S., Marzuki, S., Byrne, E. Hum. Mol. Genet. (1994)
- Activation of mitochondrial promoter P(H)-binding protein in a radio-resistant Chinese hamster cell strain associated with Bcl-2. Roychoudhury, P., Ghosh, U., Bhattacharyya, N.P., Chaudhuri, K. Biochem. Biophys. Res. Commun. (2006)
- Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. Leshinsky-Silver, E., Lev, D., Tzofi-Berman, Z., Cohen, S., Saada, A., Yanoov-Sharav, M., Gilad, E., Lerman-Sagie, T. Biochem. Biophys. Res. Commun. (2005)
- Patient preferences for in-center intense hemodialysis. Ramkumar, N., Beddhu, S., Eggers, P., Pappas, L.M., Cheung, A.K. Hemodialysis international. International Symposium on Home Hemodialysis (2005)
- Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies. Bentlage, H.A., Janssen, A.J., Chomyn, A., Attardi, G., Walker, J.E., Schägger, H., Sengers, R.C., Trijbels, F.J. Biochim. Biophys. Acta (1995)