Gene Review:
OPA1 - optic atrophy 1 (autosomal dominant)
Homo sapiens
Synonyms:
Dynamin-like 120 kDa protein, mitochondrial, FLJ12460, KIAA0567, MGM1, NPG, ...
Carelli,
Ross-Cisneros,
Sadun,
Praefcke,
McMahon,
Mabuchi,
Tang,
Kashiwagi,
Yamagata,
Iijima,
Tsukahara,
Aung,
Ocaka,
Ebenezer,
Morris,
Brice,
Child,
Hitchings,
Lehmann,
Bhattacharya,
Delettre,
Lenaers,
Pelloquin,
Belenguer,
Hamel,
Gottlieb,
Lodi,
Tonon,
Valentino,
Iotti,
Clementi,
Malucelli,
Barboni,
Longanesi,
Schimpf,
Wissinger,
Baruzzi,
Barbiroli,
Carelli,
Abu-Amero,
Bosley,
- Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Delettre, C., Lenaers, G., Griffoin, J.M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc-Carel, C., Perret, E., Astarie-Dequeker, C., Lasquellec, L., Arnaud, B., Ducommun, B., Kaplan, J., Hamel, C.P. Nat. Genet. (2000)
- OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Amati-Bonneau, P., Guichet, A., Olichon, A., Chevrollier, A., Viala, F., Miot, S., Ayuso, C., Odent, S., Arrouet, C., Verny, C., Calmels, M.N., Simard, G., Belenguer, P., Wang, J., Puel, J.L., Hamel, C., Malthièry, Y., Bonneau, D., Lenaers, G., Reynier, P. Ann. Neurol. (2005)
- Loss of the intermembrane space protein Mgm1/OPA1 induces swelling and localized constrictions along the lengths of mitochondria. Griparic, L., van der Wel, N.N., Orozco, I.J., Peters, P.J., van der Bliek, A.M. J. Biol. Chem. (2004)
- Mitochondrial Abnormalities in Patients with LHON-like Optic Neuropathies. Abu-Amero, K.K., Bosley, T.M. Invest. Ophthalmol. Vis. Sci. (2006)
- Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. Aung, T., Ocaka, L., Ebenezer, N.D., Morris, A.G., Brice, G., Child, A.H., Hitchings, R.A., Lehmann, O.J., Bhattacharya, S.S. Hum. Genet. (2002)
- Attempted eyelid closure affects intraocular pressure measurement in open-angle glaucoma patients. Jamal, K.N., Gürses-Ozden, R., Liebmann, J.M., Ritch, R. Am. J. Ophthalmol. (2002)
- OPA1 and PARL keep a lid on apoptosis. Gottlieb, E. Cell (2006)
- OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Alexander, C., Votruba, M., Pesch, U.E., Thiselton, D.L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S.S., Wissinger, B. Nat. Genet. (2000)
- Critical dependence of neurons on mitochondrial dynamics. Chen, H., Chan, D.C. Curr. Opin. Cell Biol. (2006)
- Metabolism of triglyceride-rich lipoproteins during alimentary lipemia. Karpe, F., Steiner, G., Olivecrona, T., Carlson, L.A., Hamsten, A. J. Clin. Invest. (1993)
- Effect of the angiotensin-converting enzyme inhibitor imidapril on reactive hyperemia in patients with essential hypertension: relationship between treatment periods and resistance artery endothelial function. Higashi, Y., Sasaki, S., Nakagawa, K., Matsuura, H., Kajiyama, G., Oshima, T. J. Am. Coll. Cardiol. (2001)
- Fasting hypertriglyceridemia in noninsulin-dependent diabetes mellitus is an important predictor of postprandial lipid and lipoprotein abnormalities. Lewis, G.F., O'Meara, N.M., Soltys, P.A., Blackman, J.D., Iverius, P.H., Pugh, W.L., Getz, G.S., Polonsky, K.S. J. Clin. Endocrinol. Metab. (1991)
- Nitrate therapy is an alternative to furosemide/morphine therapy in the management of acute cardiogenic pulmonary edema. Beltrame, J.F., Zeitz, C.J., Unger, S.A., Brennan, R.J., Hunt, A., Moran, J.L., Horowitz, J.D. J. Card. Fail. (1998)
- Hemodynamic and coronary vasodilative action of two nitroglycerin oral spray formulations. Gansser, R.E., Schneeweiss, A., Weiss, M., Bachmann, K.F. Cardiovascular drugs and therapy / sponsored by the International Society of Cardiovascular Pharmacotherapy. (1990)
- Ibopamine in glaucoma diagnostics: a new pharmacological provocative test. De Gregorio, F., Pecori Giraldi, J., Pannarale, L., Saccucci, S., Virno, M. International ophthalmology. (1996)
- Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Toomes, C., Marchbank, N.J., Mackey, D.A., Craig, J.E., Newbury-Ecob, R.A., Bennett, C.P., Vize, C.J., Desai, S.P., Black, G.C., Patel, N., Teimory, M., Markham, A.F., Inglehearn, C.F., Churchill, A.J. Hum. Mol. Genet. (2001)
- OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Pesch, U.E., Leo-Kottler, B., Mayer, S., Jurklies, B., Kellner, U., Apfelstedt-Sylla, E., Zrenner, E., Alexander, C., Wissinger, B. Hum. Mol. Genet. (2001)
- Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Lodi, R., Tonon, C., Valentino, M.L., Iotti, S., Clementi, V., Malucelli, E., Barboni, P., Longanesi, L., Schimpf, S., Wissinger, B., Baruzzi, A., Barbiroli, B., Carelli, V. Ann. Neurol. (2004)
- The dynamin superfamily: universal membrane tubulation and fission molecules? Praefcke, G.J., McMahon, H.T. Nat. Rev. Mol. Cell Biol. (2004)
- Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. Olichon, A., Baricault, L., Gas, N., Guillou, E., Valette, A., Belenguer, P., Lenaers, G. J. Biol. Chem. (2003)
- The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. Olichon, A., Emorine, L.J., Descoins, E., Pelloquin, L., Brichese, L., Gas, N., Guillou, E., Delettre, C., Valette, A., Hamel, C.P., Ducommun, B., Lenaers, G., Belenguer, P. FEBS Lett. (2002)
- OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Delettre, C., Lenaers, G., Pelloquin, L., Belenguer, P., Hamel, C.P. Mol. Genet. Metab. (2002)
- Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy. Dadgar, S., Hagens, O., Dadgar, S.R., Haghighi, E.N., Schimpf, S., Wissinger, B., Garshasbi, M. Exp. Eye Res. (2006)
- Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Payne, M., Yang, Z., Katz, B.J., Warner, J.E., Weight, C.J., Zhao, Y., Pearson, E.D., Treft, R.L., Hillman, T., Kennedy, R.J., Meire, F.M., Zhang, K. Am. J. Ophthalmol. (2004)
- The OPA1 Gene Polymorphism is Associated With Normal Tension and High Tension Glaucoma. Mabuchi, F., Tang, S., Kashiwagi, K., Yamagata, Z., Iijima, H., Tsukahara, S. Am. J. Ophthalmol. (2007)
- Serial angiographic assessment of coronary artery obstruction and collateral flow in acute myocardial infarction. Report from the second Mount Sinai-New York University Reperfusion Trial. Rentrop, K.P., Feit, F., Sherman, W., Thornton, J.C. Circulation (1989)
- Mitochondrial dysfunction as a cause of optic neuropathies. Carelli, V., Ross-Cisneros, F.N., Sadun, A.A. Progress in retinal and eye research. (2004)
- Mitochondrial dynamics and disease, OPA1. Olichon, A., Guillou, E., Delettre, C., Landes, T., Arnauné-Pelloquin, L., Emorine, L.J., Mils, V., Daloyau, M., Hamel, C., Amati-Bonneau, P., Bonneau, D., Reynier, P., Lenaers, G., Belenguer, P. Biochim. Biophys. Acta (2006)
- Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family. Ozden, S., Düzcan, F., Wollnik, B., Cetin, O.G., Sahiner, T., Bayramoğlu, I., Yüksel-Apak, M., Bağci, H. Ophthalmic Genet. (2002)
- A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Aung, T., Ocaka, L., Ebenezer, N.D., Morris, A.G., Krawczak, M., Thiselton, D.L., Alexander, C., Votruba, M., Brice, G., Child, A.H., Francis, P.J., Hitchings, R.A., Lehmann, O.J., Bhattacharya, S.S. Hum. Genet. (2002)
- OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain. Bette, S., Schlaszus, H., Wissinger, B., Meyermann, R., Mittelbronn, M. Acta Neuropathol. (2005)
- Polymorphisms in OPA1 are associated with normal tension glaucoma. Powell, B.L., Toomes, C., Scott, S., Yeung, A., Marchbank, N.J., Spry, P.G., Lumb, R., Inglehearn, C.F., Churchill, A.J. Mol. Vis. (2003)