Gene Review:
MT-ND1 - mitochondrially encoded NADH dehydrogenase 1
Homo sapiens
Synonyms:
MTND1, NAD1, NADH dehydrogenase subunit 1, NADH dehydrogenase, subunit 1 (complex I), NADH-ubiquinone oxidoreductase chain 1, ...
- 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)
- DNA methylation regulates the expression of Y chromosome specific genes in prostate cancer. Dasari, V.K., Deng, D., Perinchery, G., Yeh, C.C., Dahiya, R. J. Urol. (2002)
- A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. Jaksch, M., Hofmann, S., Kaufhold, P., Obermaier-Kusser, B., Zierz, S., Gerbitz, K.D. Hum. Mutat. (1996)
- A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. Simon, D.K., Friedman, J., Breakefield, X.O., Jankovic, J., Brin, M.F., Provias, J., Bressman, S.B., Charness, M.E., Tarsy, D., Johns, D.R., Tarnopolsky, M.A. Neurogenetics (2003)
- 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)
- Quantitative analysis of mitochondrial DNA deletions in the brains of patients with bipolar disorder and schizophrenia. Kakiuchi, C., Ishiwata, M., Kametani, M., Nelson, C., Iwamoto, K., Kato, T. Int. J. Neuropsychopharmacol. (2005)
- Heteroplasmic mitochondrial DNA 3310 mutation in NADH dehydrogenase subunit 1 associated with type 2 diabetes, hypertrophic cardiomyopathy, and mental retardation in a single patient. Hattori, Y., Nakajima, K., Eizawa, T., Ehara, T., Koyama, M., Hirai, T., Fukuda, Y., Kinoshita, M. Diabetes Care (2003)
- Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia. Autere, J., Moilanen, J.S., Finnilä, S., Soininen, H., Mannermaa, A., Hartikainen, P., Hallikainen, M., Majamaa, K. Hum. Genet. (2004)
- Trans splicing in Oenothera mitochondria: nad1 mRNAs are edited in exon and trans-splicing group II intron sequences. Wissinger, B., Schuster, W., Brennicke, A. Cell (1991)
- URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit. Chomyn, A., Cleeter, M.W., Ragan, C.I., Riley, M., Doolittle, R.F., Attardi, G. Science (1986)
- Multiple trans-splicing events are required to produce a mature nad1 transcript in a plant mitochondrion. Conklin, P.L., Wilson, R.K., Hanson, M.R. Genes Dev. (1991)
- Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Hudson, G., Keers, S., Yu Wai Man, P., Griffiths, P., Huoponen, K., Savontaus, M.L., Nikoskelainen, E., Zeviani, M., Carrara, F., Horvath, R., Karcagi, V., Spruijt, L., de Coo, I.F., Smeets, H.J., Chinnery, P.F. Am. J. Hum. Genet. (2005)
- Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. Musumeci, O., Andreu, A.L., Shanske, S., Bresolin, N., Comi, G.P., Rothstein, R., Schon, E.A., DiMauro, S. Am. J. Hum. Genet. (2000)
- Mitochondrial complex I activity is significantly decreased in a patient with maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy associated with mitochondrial DNA C3310T mutation: A cybrid study. Chen, J., Hattori, Y., Nakajima, K., Eizawa, T., Ehara, T., Koyama, M., Hirai, T., Fukuda, Y., Kinoshita, M., Sugiyama, A., Hayashi, J., Onaya, T., Kobayashi, T., Tawata, M. Diabetes Res. Clin. Pract. (2006)
- The complex I from Rhodobacter capsulatus. Dupuis, A., Chevallet, M., Darrouzet, E., Duborjal, H., Lunardi, J., Issartel, J.P. Biochim. Biophys. Acta (1998)
- Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Howell, N., Kubacka, I., Xu, M., McCullough, D.A. Am. J. Hum. Genet. (1991)
- Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Carelli, V., Ghelli, A., Ratta, M., Bacchilega, E., Sangiorgi, S., Mancini, R., Leuzzi, V., Cortelli, P., Montagna, P., Lugaresi, E., Degli Esposti, M. Neurology (1997)
- 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)
- 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)
- Novel mitochondrial DNA mutations in Parkinson's disease. Richter, G., Sonnenschein, A., Grünewald, T., Reichmann, H., Janetzky, B. Journal of neural transmission (Vienna, Austria : 1996) (2002)
- Is differential regulation of mitochondrial transcripts in Parkinson's disease related to apoptosis? Ruberg, M., Brugg, B., Prigent, A., Hirsch, E., Brice, A., Agid, Y. J. Neurochem. (1997)
- NADPH-diaphorase neurones of human retinae have a uniform topographical distribution. Provis, J.M., Mitrofanis, J. Vis. Neurosci. (1990)
- Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Cock, H.R., Cooper, J.M., Schapira, A.H. J. Neurol. Sci. (1999)
- Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). Majander, A., Huoponen, K., Savontaus, M.L., Nikoskelainen, E., Wikström, M. FEBS Lett. (1991)
- Mitochondrial DNA mutations in patients with orthostatic hypotension. Schwartz, F., Baldwin, C.T., Baima, J., Gavras, H. Am. J. Med. Genet. (1999)
- Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's hereditary optic neuropathy (LHON). Ghelli, A., Degli Esposti, M., Carelli, V., Lenaz, G. Mol. Aspects Med. (1997)
- The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy. Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E., Savontaus, M.L. Hum. Genet. (1993)
- Mutation scanning-coupled analysis of haplotypic variability in mitochondrial DNA regions reveals low gene flow between human and porcine Ascaris in endemic regions of China. Peng, W., Yuan, K., Hu, M., Zhou, X., Gasser, R.B. Electrophoresis (2005)
- Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. Lebon, S., Chol, M., Benit, P., Mugnier, C., Chretien, D., Giurgea, I., Kern, I., Girardin, E., Hertz-Pannier, L., de Lonlay, P., Rötig, A., Rustin, P., Munnich, A. J. Med. Genet. (2003)
- Mitochondrial DNA and RNA processing in MELAS. Kaufmann, P., Koga, Y., Shanske, S., Hirano, M., DiMauro, S., King, M.P., Schon, E.A. Ann. Neurol. (1996)
- Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy. Carta, A., Carelli, V., D'Adda, T., Ross-Cisneros, F.N., Sadun, A.A. The British journal of ophthalmology. (2005)
- Human prostate carcinoma cell lines secrete GM-CSF and express GM-CSF-receptor on their cell surface. Rokhlin, O.W., Griebling, T.L., Karassina, N.V., Raines, M.A., Cohen, M.B. Anticancer Res. (1996)