Gene Review:
CAPN3 - calpain 3, (p94)
Homo sapiens
Synonyms:
CANP 3, CANP3, CANPL3, Calcium-activated neutral proteinase 3, Calpain L3, ...
Fanin,
Fulizio,
Nascimbeni,
Spinazzi,
Piluso,
Ventriglia,
Ruzza,
Siciliano,
Trevisan,
Politano,
Nigro,
Angelini,
Vainzof,
Moreira,
Suzuki,
Faulkner,
Valle,
Beggs,
Carpen,
Ribeiro,
Zanoteli,
Gurgel-Gianneti,
Tsanaclis,
Silva,
Passos-Bueno,
Zatz,
Marcilhac,
Raynaud,
Clerc,
Benyamin,
Jenne,
Kley,
Vorgerd,
Schröder,
Weis,
Reimann,
Albrecht,
Nürnberg,
Thiele,
Müller,
Meng,
Witt,
Labeit,
Canki-Klain,
Milic,
Kovac,
Trlaja,
Grgicevic,
Zurak,
Fardeau,
Leturcq,
Kaplan,
Urtizberea,
Politano,
Piluso,
Feingold,
Kramerova,
Kudryashova,
Wu,
Spencer,
Walder,
McMillan,
Lapsys,
Kriketos,
Trevaskis,
Civitarese,
Southon,
Zimmet,
Collier,
Richard,
Bourg,
Marchand,
Alibert,
Eymard,
van der Kooi,
Jackson,
Garcia,
Burgunder,
Legum,
de Visser,
Fardeau,
Beckmann,
- Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain. Huebsch, K.A., Kudryashova, E., Wooley, C.M., Sher, R.B., Seburn, K.L., Spencer, M.J., Cox, G.A. Hum. Mol. Genet. (2005)
- The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. Garvey, S.M., Rajan, C., Lerner, A.P., Frankel, W.N., Cox, G.A. Genomics (2002)
- Purification and identification of two putative autolytic sites in human calpain 3 (p94) expressed in heterologous systems. Federici, C., Eshdat, Y., Richard, I., Bertin, B., Guillaume, J.L., Hattab, M., Beckmann, J.S., Strosberg, A.D., Camoin, L. Arch. Biochem. Biophys. (1999)
- Molecular diagnosis in LGMD2A: mutation analysis or protein testing? Fanin, M., Fulizio, L., Nascimbeni, A.C., Spinazzi, M., Piluso, G., Ventriglia, V.M., Ruzza, G., Siciliano, G., Trevisan, C.P., Politano, L., Nigro, V., Angelini, C. Hum. Mutat. (2004)
- A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Bashir, R., Britton, S., Strachan, T., Keers, S., Vafiadaki, E., Lako, M., Richard, I., Marchand, S., Bourg, N., Argov, Z., Sadeh, M., Mahjneh, I., Marconi, G., Passos-Bueno, M.R., Moreira, E.d.e. .S., Zatz, M., Beckmann, J.S., Bushby, K. Nat. Genet. (1998)
- Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Richard, I., Broux, O., Allamand, V., Fougerousse, F., Chiannilkulchai, N., Bourg, N., Brenguier, L., Devaud, C., Pasturaud, P., Roudaut, C. Cell (1995)
- Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice. Richard, I., Roudaut, C., Marchand, S., Baghdiguian, S., Herasse, M., Stockholm, D., Ono, Y., Suel, L., Bourg, N., Sorimachi, H., Lefranc, G., Fardeau, M., Sébille, A., Beckmann, J.S. J. Cell Biol. (2000)
- Insertion sequence 1 of muscle-specific calpain, p94, acts as an internal propeptide. Diaz, B.G., Moldoveanu, T., Kuiper, M.J., Campbell, R.L., Davies, P.L. J. Biol. Chem. (2004)
- Regulation of the M-Cadherin-{beta}-Catenin Complex by Calpain 3 during Terminal Stages of Myogenic Differentiation. Kramerova, I., Kudryashova, E., Wu, B., Spencer, M.J. Mol. Cell. Biol. (2006)
- Detection and localization of calpain 3-like protease in a neuronal cell line: Possible regulation of apoptotic cell death through degradation of nuclear IkappaBalpha. Marcilhac, A., Raynaud, F., Clerc, I., Benyamin, Y. Int. J. Biochem. Cell Biol. (2006)
- Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. Jenne, D.E., Kley, R.A., Vorgerd, M., Schröder, J.M., Weis, J., Reimann, H., Albrecht, B., Nürnberg, P., Thiele, H., Müller, C.R., Meng, G., Witt, C.C., Labeit, S. Biol. Chem. (2005)
- Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. Canki-Klain, N., Milic, A., Kovac, B., Trlaja, A., Grgicevic, D., Zurak, N., Fardeau, M., Leturcq, F., Kaplan, J.C., Urtizberea, J.A., Politano, L., Piluso, G., Feingold, J. Am. J. Med. Genet. A (2004)
- Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. Kramerova, I., Kudryashova, E., Tidball, J.G., Spencer, M.J. Hum. Mol. Genet. (2004)
- Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development. Fougerousse, F., Durand, M., Suel, L., Pourquié, O., Delezoide, A.L., Romero, N.B., Abitbol, M., Beckmann, J.S. Genomics (1998)
- Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A. Sorimachi, H., Ono, Y., Suzuki, K. Adv. Exp. Med. Biol. (2000)
- Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle. Sorimachi, H., Imajoh-Ohmi, S., Emori, Y., Kawasaki, H., Ohno, S., Minami, Y., Suzuki, K. J. Biol. Chem. (1989)
- Newly identified exons encoding novel variants of p94/calpain 3 are expressed ubiquitously and overlap the alpha-glucosidase C gene. Kawabata, Y., Hata, S., Ono, Y., Ito, Y., Suzuki, K., Abe, K., Sorimachi, H. FEBS Lett. (2003)
- Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system. Ono, Y., Torii, F., Ojima, K., Doi, N., Yoshioka, K., Kawabata, Y., Labeit, D., Labeit, S., Suzuki, K., Abe, K., Maeda, T., Sorimachi, H. J. Biol. Chem. (2006)
- Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs. Kinbara, K., Sorimachi, H., Ishiura, S., Suzuki, K. Arch. Biochem. Biophys. (1997)
- CAPN3 mutations in patients with idiopathic eosinophilic myositis. Krahn, M., Lopez de Munain, A., Streichenberger, N., Bernard, R., Pécheux, C., Testard, H., Pena-Segura, J.L., Yoldi, E., Cabello, A., Romero, N.B., Poza, J.J., Bouillot-Eimer, S., Ferrer, X., Goicoechea, M., Garcia-Bragado, F., Leturcq, F., Urtizberea, J.A., Lévy, N. Ann. Neurol. (2006)
- Calpain 3 gene expression in skeletal muscle is associated with body fat content and measures of insulin resistance. Walder, K., McMillan, J., Lapsys, N., Kriketos, A., Trevaskis, J., Civitarese, A., Southon, A., Zimmet, P., Collier, G. Int. J. Obes. Relat. Metab. Disord. (2002)
- Limb-girdle muscular dystrophies--from genetics to molecular pathology. Laval, S.H., Bushby, K.M. Neuropathol. Appl. Neurobiol. (2004)
- Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Passos-Bueno, M.R., Vainzof, M., Moreira, E.S., Zatz, M. Am. J. Med. Genet. (1999)
- A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies. Richard, I., Bourg, N., Marchand, S., Alibert, O., Eymard, B., van der Kooi, A.J., Jackson, C.E., Garcia, C., Burgunder, J.M., Legum, C., de Visser, M., Fardeau, M., Beckmann, J.S. Neuromuscul. Disord. (1999)
- Skeletal muscle-specific calpain, p49: structure and physiological function. Kinbara, K., Sorimachi, H., Ishiura, S., Suzuki, K. Biochem. Pharmacol. (1998)
- Telethonin protein expression in neuromuscular disorders. Vainzof, M., Moreira, E.S., Suzuki, O.T., Faulkner, G., Valle, G., Beggs, A.H., Carpen, O., Ribeiro, A.F., Zanoteli, E., Gurgel-Gianneti, J., Tsanaclis, A.M., Silva, H.C., Passos-Bueno, M.R., Zatz, M. Biochim. Biophys. Acta (2002)
- Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. Piluso, G., Politano, L., Aurino, S., Fanin, M., Ricci, E., Ventriglia, V.M., Belsito, A., Totaro, A., Saccone, V., Topaloglu, H., Nascimbeni, A.C., Fulizio, L., Broccolini, A., Canki-Klain, N., Comi, L.I., Nigro, G., Angelini, C., Nigro, V. J. Med. Genet. (2005)