Gene Review:
SGCD - sarcoglycan, delta (35kDa dystrophin...
Homo sapiens
Synonyms:
35 kDa dystrophin-associated glycoprotein, 35DAG, CMD1L, DAGD, Delta-SG, ...
- Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nigro, V., de Sá Moreira, E., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A.A., Passos-Bueno, M.R., Zatz, M. Nat. Genet. (1996)
- Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Duggan, D.J., Manchester, D., Stears, K.P., Mathews, D.J., Hart, C., Hoffman, E.P. Neurogenetics (1997)
- Nuclear sequestration of {delta}-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. Heydemann, A., Demonbreun, A., Hadhazy, M., Earley, J.U., McNally, E.M. Hum. Mol. Genet. (2007)
- Strain- and age-dependent loss of sarcoglycan complex in cardiomyopathic hamster hearts and its re-expression by delta-sarcoglycan gene transfer in vivo. Kawada, T., Nakatsuru, Y., Sakamoto, A., Koizumi, T., Shin, W.S., Okai-Matsuo, Y., Suzuki, J., Uehara, Y., Nakazawa, M., Sato, H., Ishikawa, T., Toyo-oka, T. FEBS Lett. (1999)
- Limb-girdle muscular dystrophy 2C: clinical aspects. Ben Hamida, M., Ben Hamida, C., Zouari, M., Belal, S., Hentati, F. Neuromuscul. Disord. (1996)
- Mutations in the sarcoglycan genes in patients with myopathy. Duggan, D.J., Gorospe, J.R., Fanin, M., Hoffman, E.P., Angelini, C. N. Engl. J. Med. (1997)
- Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer. Holt, K.H., Lim, L.E., Straub, V., Venzke, D.P., Duclos, F., Anderson, R.D., Davidson, B.L., Campbell, K.P. Mol. Cell (1998)
- A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. Moreira, E.S., Vainzof, M., Marie, S.K., Nigro, V., Zatz, M., Passos-Bueno, M.R. J. Med. Genet. (1998)
- A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein. Gouveia, T.L., Kossugue, P.M., Paim, J.F., Zatz, M., Anderson, L.V., Nigro, V., Vainzof, M. J. Mol. Med. (2007)
- The canine sarcoglycan delta gene: BAC clone contig assembly, chromosome assignment and interrogation as a candidate gene for dilated cardiomyopathy in Dobermann dogs. Stabej, P., Leegwater, P.A., Imholz, S., Versteeg, S.A., Zijlstra, C., Stokhof, A.A., Domanjko-Petriè, A., van Oost, B.A. Cytogenet. Genome Res. (2005)
- Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. Tsubata, S., Bowles, K.R., Vatta, M., Zintz, C., Titus, J., Muhonen, L., Bowles, N.E., Towbin, J.A. J. Clin. Invest. (2000)
- The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Moreira, E.S., Vainzof, M., Marie, S.K., Sertié, A.L., Zatz, M., Passos-Bueno, M.R. Am. J. Hum. Genet. (1997)
- Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster. Straub, V., Duclos, F., Venzke, D.P., Lee, J.C., Cutshall, S., Leveille, C.J., Campbell, K.P. Am. J. Pathol. (1998)
- The beta-delta-core of sarcoglycan is essential for deposition at the plasma membrane. Draviam, R.A., Shand, S.H., Watkins, S.C. Muscle Nerve (2006)
- Ultrastructure of diaphragm from dystrophic alpha-sarcoglycan-null mice. Jakubiec-Puka, A., Biral, D., Krawczyk, K., Betto, R. Acta Biochim. Pol. (2005)
- {alpha}-Linolenic Acid-Enriched Diet Prevents Myocardial Damage and Expands Longevity in Cardiomyopathic Hamsters. Fiaccavento, R., Carotenuto, F., Minieri, M., Masuelli, L., Vecchini, A., Bei, R., Modesti, A., Binaglia, L., Fusco, A., Bertoli, A., Forte, G., Carosella, L., Di Nardo, P. Am. J. Pathol. (2006)
- Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Crosbie, R.H., Lim, L.E., Moore, S.A., Hirano, M., Hays, A.P., Maybaum, S.W., Collin, H., Dovico, S.A., Stolle, C.A., Fardeau, M., Tomé, F.M., Campbell, K.P. Hum. Mol. Genet. (2000)
- 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)
- The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Vainzof, M., Passos-Bueno, M.R., Canovas, M., Moreira, E.S., Pavanello, R.C., Marie, S.K., Anderson, L.V., Bonnemann, C.G., McNally, E.M., Nigro, V., Kunkel, L.M., Zatz, M. Hum. Mol. Genet. (1996)
- A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Dinçer, P., Leturcq, F., Richard, I., Piccolo, F., Yalnizoglu, D., de Toma, C., Akçören, Z., Broux, O., Deburgrave, N., Brenguier, L., Roudaut, C., Urtizberea, J.A., Jung, D., Tan, E., Jeanpierre, M., Campbell, K.P., Kaplan, J.C., Beckmann, J.S., Topaloglu, H. Ann. Neurol. (1997)
- Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. Fanin, M., Duggan, D.J., Mostacciuolo, M.L., Martinello, F., Freda, M.P., Sorarù, G., Trevisan, C.P., Hoffman, E.P., Angelini, C. J. Med. Genet. (1997)
- Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Nigro, V., Piluso, G., Belsito, A., Politano, L., Puca, A.A., Papparella, S., Rossi, E., Viglietto, G., Esposito, M.G., Abbondanza, C., Medici, N., Molinari, A.M., Nigro, G., Puca, G.A. Hum. Mol. Genet. (1996)
- rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy. Li, J., Dressman, D., Tsao, Y.P., Sakamoto, A., Hoffman, E.P., Xiao, X. Gene Ther. (1999)
- Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Bushby, K., Anderson, L.V., Pollitt, C., Naom, I., Muntoni, F., Bindoff, L. Brain (1998)
- Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Sakamoto, A., Ono, K., Abe, M., Jasmin, G., Eki, T., Murakami, Y., Masaki, T., Toyo-oka, T., Hanaoka, F. Proc. Natl. Acad. Sci. U.S.A. (1997)