Gene Review:
MT-ND4 - mitochondrially encoded NADH dehydrogenase 4
Homo sapiens
Synonyms:
MTND4, NAD4, NADH dehydrogenase subunit 4, NADH dehydrogenase, subunit 4 (complex I), NADH-ubiquinone oxidoreductase chain 4, ...
Tan,
Chang,
Liu,
Bai,
Wang,
Yeh,
Wong,
Leo-Kottler,
Luberichs,
Besch,
Christ-Adler,
Fauser,
Kakiuchi,
Ishiwata,
Kametani,
Nelson,
Iwamoto,
Kato,
Carelli,
Valentino,
Liguori,
Meletti,
Vetrugno,
Provini,
Mancardi,
Bandini,
Baruzzi,
Montagna,
Verma,
Bijarnia,
Saxena,
Kohli,
Puri,
Thomas,
Chowdhary,
Jha,
Grover,
Lodi,
Montagna,
Cortelli,
Iotti,
Cevoli,
Carelli,
Barbiroli,
Lamminen,
Huoponen,
Sistonen,
Juvonen,
Lahermo,
Aula,
Nikoskelainen,
Savontaus,
Martorell,
Segués,
Folch,
Valero,
Joven,
Labad,
Vilella,
Engel,
Hogan,
Taylor,
Davis,
- Mitochondrial DNA deletions in inclusion body myositis. Oldfors, A., Larsson, N.G., Lindberg, C., Holme, E. Brain (1993)
- Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery. Leo-Kottler, B., Luberichs, J., Besch, D., Christ-Adler, M., Fauser, S. Graefes Arch. Clin. Exp. Ophthalmol. (2002)
- A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. Lertrit, P., Noer, A.S., Jean-Francois, M.J., Kapsa, R., Dennett, X., Thyagarajan, D., Lethlean, K., Byrne, E., Marzuki, S. Am. J. Hum. Genet. (1992)
- Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? Carelli, V., Franceschini, F., Venturi, S., Barboni, P., Savini, G., Barbieri, G., Pirro, E., La Morgia, C., Valentino, M.L., Zanardi, F., Violante, F.S., Mattioli, S. Environ. Health Perspect. (2007)
- Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases. Carelli, V., Valentino, M.L., Liguori, R., Meletti, S., Vetrugno, R., Provini, F., Mancardi, G.L., Bandini, F., Baruzzi, A., Montagna, P. J. Neurol. Neurosurg. Psychiatr. (2001)
- 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)
- Gene expression of ND4, a subunit of complex I of oxidative phosphorylation in mitochondria, is decreased in temporal cortex of brains of Alzheimer's disease patients. Fukuyama, R., Hatanpää, K., Rapoport, S.I., Chandrasekaran, K. Brain Res. (1996)
- A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. Singh, G., Lott, M.T., Wallace, D.C. N. Engl. J. Med. (1989)
- 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)
- 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)
- 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)
- 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)
- mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy. Lamminen, T., Huoponen, K., Sistonen, P., Juvonen, V., Lahermo, P., Aula, P., Nikoskelainen, E., Savontaus, M.L. Eur. J. Hum. Genet. (1997)
- Leber's hereditary optic neuropathy with molecular characterization in two Indian families. Verma, I.C., Bijarnia, S., Saxena, R., Kohli, S., Puri, R.D., Thomas, E., Chowdhary, D., Jha, S.N., Grover, A.K. Indian journal of ophthalmology. (2005)
- 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)
- 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)
- 'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation. Lodi, R., Montagna, P., Cortelli, P., Iotti, S., Cevoli, S., Carelli, V., Barbiroli, B. Brain (2000)
- MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Vergani, L., Martinuzzi, A., Carelli, V., Cortelli, P., Montagna, P., Schievano, G., Carrozzo, R., Angelini, C., Lugaresi, E. Biochem. Biophys. Res. Commun. (1995)
- 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)
- Molecular systematics and paleobiogeography of the South American sigmodontine rodents. Engel, S.R., Hogan, K.M., Taylor, J.F., Davis, S.K. Mol. Biol. Evol. (1998)
- Mitochondrial DNA mutation in Leber's hereditary optic neuropathy. Yen, M.Y., Yen, T.C., Pang, C.Y., Liu, J.H., Wei, Y.H. Invest. Ophthalmol. Vis. Sci. (1992)
- Phylogenetic studies of pantherine cats (Felidae) based on multiple genes, with novel application of nuclear beta-fibrinogen intron 7 to carnivores. Yu, L., Zhang, Y.P. Mol. Phylogenet. Evol. (2005)
- 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)
- De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. McFarland, R., Kirby, D.M., Fowler, K.J., Ohtake, A., Ryan, M.T., Amor, D.J., Fletcher, J.M., Dixon, J.W., Collins, F.A., Turnbull, D.M., Taylor, R.W., Thorburn, D.R. Ann. Neurol. (2004)
- Identification of somatic and germline mitochondrial DNA sequence variants in prostate cancer patients. Gómez-Zaera, M., Abril, J., González, L., Aguiló, F., Condom, E., Nadal, M., Nunes, V. Mutat. Res. (2006)
- Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer. Tan, D.J., Chang, J., Liu, L.L., Bai, R.K., Wang, Y.F., Yeh, K.T., Wong, L.J. BMC Cancer (2006)
- Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease. Nakamura, M., Fujiwara, Y., Yamamoto, M. Invest. Ophthalmol. Vis. Sci. (1993)
- Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Wallace, D.C., Singh, G., Lott, M.T., Hodge, J.A., Schurr, T.G., Lezza, A.M., Elsas, L.J., Nikoskelainen, E.K. Science (1988)
- New variants in the mitochondrial genomes of schizophrenic patients. Martorell, L., Segués, T., Folch, G., Valero, J., Joven, J., Labad, A., Vilella, E. Eur. J. Hum. Genet. (2006)
- Conformational mutation in human mtDNA detected by direct sequencing of enzymatically amplified DNA. Vigilant, L., Stoneking, M., Wilson, A.C. Nucleic Acids Res. (1988)
- The Mutant Human ND4 Subunit of Complex I Induces Optic Neuropathy in the Mouse. Qi, X., Sun, L., Lewin, A.S., Hauswirth, W.W., Guy, J. Invest. Ophthalmol. Vis. Sci. (2007)