Gene Review:
CAV3 - caveolin 3
Homo sapiens
Synonyms:
Caveolin-3, LGMD1C, LQT9, M-caveolin, VIP-21, ...
Cagliani,
Bresolin,
Prelle,
Gallanti,
Fortunato,
Sironi,
Ciscato,
Fagiolari,
Bonato,
Galbiati,
Corti,
Lamperti,
Moggio,
Comi,
Van den Bergh,
Gérard,
Elosegi,
Manto,
Kubisch,
Schoser,
Perez-Reyes,
Fulizio,
Chiara Nascimbeni,
Fanin,
Piluso,
Politano,
Nigro,
Angelini,
Matsuda,
Hayashi,
Ogawa,
Aoki,
Murayama,
Nishino,
Nonaka,
Arahata,
Brown,
Minetti,
Sotgia,
Bruno,
Scartezzini,
Broda,
Bado,
Masetti,
Mazzocco,
Egeo,
Donati,
Volonte,
Galbiati,
Cordone,
Bricarelli,
Lisanti,
Zara,
Tateyama,
Aoki,
Nishino,
Hayashi,
Sekiguchi,
Shiga,
Takahashi,
Onodera,
Haginoya,
Kobayashi,
Iinuma,
Nonaka,
Arahata,
Itoyama,
Itoyoma,
McNally,
de Sá Moreira,
Duggan,
Bönnemann,
Lisanti,
Lidov,
Vainzof,
Passos-Bueno,
Hoffman,
Zatz,
Kunkel,
Minetti,
Bado,
Broda,
Sotgia,
Bruno,
Galbiati,
Volonte,
Lucania,
Pavan,
Bonilla,
Lisanti,
Cordone,
- Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Betz, R.C., Schoser, B.G., Kasper, D., Ricker, K., Ramírez, A., Stein, V., Torbergsen, T., Lee, Y.A., Nöthen, M.M., Wienker, T.F., Malin, J.P., Propping, P., Reis, A., Mortier, W., Jentsch, T.J., Vorgerd, M., Kubisch, C. Nat. Genet. (2001)
- Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Kubisch, C., Schoser, B.G., von Düring, M., Betz, R.C., Goebel, H.H., Zahn, S., Ehrbrecht, A., Aasly, J., Schroers, A., Popovic, N., Lochmüller, H., Schröder, J.M., Brüning, T., Malin, J.P., Fricke, B., Meinck, H.M., Torbergsen, T., Engels, H., Voss, B., Vorgerd, M. Ann. Neurol. (2003)
- A CAV3 microdeletion differentially affects skeletal muscle and myocardium. Cagliani, R., Bresolin, N., Prelle, A., Gallanti, A., Fortunato, F., Sironi, M., Ciscato, P., Fagiolari, G., Bonato, S., Galbiati, S., Corti, S., Lamperti, C., Moggio, M., Comi, G.P. Neurology (2003)
- Molecular and muscle pathology in a series of caveolinopathy patients. Fulizio, L., Chiara Nascimbeni, A., Fanin, M., Piluso, G., Politano, L., Nigro, V., Angelini, C. Hum. Mutat. (2005)
- Caveolin-3 upregulation activates beta-secretase-mediated cleavage of the amyloid precursor protein in Alzheimer's disease. Nishiyama, K., Trapp, B.D., Ikezu, T., Ransohoff, R.M., Tomita, T., Iwatsubo, T., Kanazawa, I., Hsiao, K.K., Lisanti, M.P., Okamoto, T. J. Neurosci. (1999)
- Molecular physiology of low-voltage-activated t-type calcium channels. Perez-Reyes, E. Physiol. Rev. (2003)
- Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Minetti, C., Sotgia, F., Bruno, C., Scartezzini, P., Broda, P., Bado, M., Masetti, E., Mazzocco, M., Egeo, A., Donati, M.A., Volonte, D., Galbiati, F., Cordone, G., Bricarelli, F.D., Lisanti, M.P., Zara, F. Nat. Genet. (1998)
- Caveolae and caveolins. Parton, R.G. Curr. Opin. Cell Biol. (1996)
- Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Carbone, I., Bruno, C., Sotgia, F., Bado, M., Broda, P., Masetti, E., Panella, A., Zara, F., Bricarelli, F.D., Cordone, G., Lisanti, M.P., Minetti, C. Neurology (2000)
- Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease. Van den Bergh, P.Y., Gérard, J.M., Elosegi, J.A., Manto, M.U., Kubisch, C., Schoser, B.G. J. Neurol. Neurosurg. Psychiatr. (2004)
- Phenotypic variability associated with Arg26Gln mutation in caveolin3. Fee, D.B., So, Y.T., Barraza, C., Figueroa, K.P., Pulst, S.M. Muscle Nerve (2004)
- Caveolin-3 in muscular dystrophy. McNally, E.M., de Sá Moreira, E., Duggan, D.J., Bönnemann, C.G., Lisanti, M.P., Lidov, H.G., Vainzof, M., Passos-Bueno, M.R., Hoffman, E.P., Zatz, M., Kunkel, L.M. Hum. Mol. Genet. (1998)
- The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Matsuda, C., Hayashi, Y.K., Ogawa, M., Aoki, M., Murayama, K., Nishino, I., Nonaka, I., Arahata, K., Brown, R.H. Hum. Mol. Genet. (2001)
- Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hernández-Deviez, D.J., Martin, S., Laval, S.H., Lo, H.P., Cooper, S.T., North, K.N., Bushby, K., Parton, R.G. Hum. Mol. Genet. (2006)
- Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle. Tang, Z., Scherer, P.E., Okamoto, T., Song, K., Chu, C., Kohtz, D.S., Nishimoto, I., Lodish, H.F., Lisanti, M.P. J. Biol. Chem. (1996)
- Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. Capanni, C., Sabatelli, P., Mattioli, E., Ognibene, A., Columbaro, M., Lattanzi, G., Merlini, L., Minetti, C., Maraldi, N.M., Squarzoni, S. Exp. Mol. Med. (2003)
- Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Tateyama, M., Aoki, M., Nishino, I., Hayashi, Y.K., Sekiguchi, S., Shiga, Y., Takahashi, T., Onodera, Y., Haginoya, K., Kobayashi, K., Iinuma, K., Nonaka, I., Arahata, K., Itoyama, Y., Itoyoma, Y. Neurology (2002)
- Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. Merlini, L., Carbone, I., Capanni, C., Sabatelli, P., Tortorelli, S., Sotgia, F., Lisanti, M.P., Bruno, C., Minetti, C. J. Neurol. Neurosurg. Psychiatr. (2002)
- Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex. Galbiati, F., Volonte, D., Minetti, C., Chu, J.B., Lisanti, M.P. J. Biol. Chem. (1999)
- Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency. Minetti, C., Bado, M., Broda, P., Sotgia, F., Bruno, C., Galbiati, F., Volonte, D., Lucania, G., Pavan, A., Bonilla, E., Lisanti, M.P., Cordone, G. Am. J. Pathol. (2002)
- Evidence for cardiac sodium-calcium exchanger association with caveolin-3. Bossuyt, J., Taylor, B.E., James-Kracke, M., Hale, C.C. FEBS Lett. (2002)
- Sarcolemmal FAT/CD36 in human skeletal muscle colocalizes with caveolin-3 and is more abundant in type 1 than in type 2 fibers. Vistisen, B., Roepstorff, K., Roepstorff, C., Bonen, A., van Deurs, B., Kiens, B. J. Lipid Res. (2004)
- Identification of caveolae and detection of caveolin in normal human osteoblasts. Lofthouse, R.A., Davis, J.R., Frondoza, C.G., Jinnah, R.H., Hungerford, D.S., Hare, J.M. The Journal of bone and joint surgery. British volume. (2001)
- Caveolin is an activator of insulin receptor signaling. Yamamoto, M., Toya, Y., Schwencke, C., Lisanti, M.P., Myers, M.G., Ishikawa, Y. J. Biol. Chem. (1998)
- Novel mechanism for sudden infant death syndrome: Persistent late sodium current secondary to mutations in caveolin-3. Cronk, L.B., Ye, B., Kaku, T., Tester, D.J., Vatta, M., Makielski, J.C., Ackerman, M.J. Heart rhythm : the official journal of the Heart Rhythm Society (2007)
- Mechanical unloading increases caveolin expression in the failing human heart. Uray, I.P., Connelly, J.H., Frazier, O.H., Taegtmeyer, H., Davies, P.J. Cardiovasc. Res. (2003)
- Molecular cloning of human caveolin 3. Biederer, C., Ries, S., Drobnik, W., Schmitz, G. Biochim. Biophys. Acta (1998)
- Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome. Sotgia, F., Minetti, C., Lisanti, M.P. FEBS Lett. (1999)
- Consequences of a novel caveolin-3 mutation in a large German family. Fischer, D., Schroers, A., Blümcke, I., Urbach, H., Zerres, K., Mortier, W., Vorgerd, M., Schröder, R. Ann. Neurol. (2003)