Gene Review:
SGCA - sarcoglycan, alpha (50kDa dystrophin...
Homo sapiens
Synonyms:
50 kDa dystrophin-associated glycoprotein, 50-DAG, 50DAG, A2, ADL, ...
- Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. Walter, M.C., Dekomien, G., Schlotter-Weigel, B., Reilich, P., Pongratz, D., Müller-Felber, W., Epplen, J.T., Huebner, A., Lochmüller, H. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. (2004)
- Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. Jung, D., Duclos, F., Apostol, B., Straub, V., Lee, J.C., Allamand, V., Venzke, D.P., Sunada, Y., Moomaw, C.R., Leveille, C.J., Slaughter, C.A., Crawford, T.O., McPherson, J.D., Campbell, K.P. J. Biol. Chem. (1996)
- Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. Vainzof, M., Passos-Bueno, M.R., Pavanello, R.C., Marie, S.K., Oliveira, A.S., Zatz, M. J. Neurol. Sci. (1999)
- Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Piccolo, F., Roberds, S.L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrié, A., Récan, D., Chaouch, M., Reghis, A. Nat. Genet. (1995)
- Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. Kawai, H., Akaike, M., Endo, T., Adachi, K., Inui, T., Mitsui, T., Kashiwagi, S., Fujiwara, T., Okuno, S., Shin, S. J. Clin. Invest. (1995)
- Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings. Nashef, L., Lake, B.D., Schapira, A.H. J. Neurol. Neurosurg. Psychiatr. (1997)
- Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case-control study. Dikeos, D.G., Papadimitriou, G.N., Souery, D., Del-Favero, J., Massat, I., Blackwood, D., Cichon, S., Daskalopoulou, E., Ivezic, S., Kaneva, R., Karadima, G., Lorenzi, C., Milanova, V., Muir, W., Nöthen, M., Oruc, L., Rietschel, M., Serretti, A., Van Broeckhoven, C., Soldatos, C.R., Stefanis, C.N., Mendlewicz, J. Psychiatr. Genet. (2006)
- Genetic association between alleles of pancreatic phospholipase A2 gene and bipolar affective disorder. Dawson, E., Gill, M., Curtis, D., Castle, D., Hunt, N., Murray, R., Powell, J. Psychiatr. Genet. (1995)
- Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. McNally, E.M., Bönnemann, C.G., Kunkel, L.M., Bhattacharya, S.K. N. Engl. J. Med. (1996)
- Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Bönnemann, C.G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E.M., Duggan, D.J., Angelini, C., Hoffman, E.P. Nat. Genet. (1995)
- Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Roberds, S.L., Leturcq, F., Allamand, V., Piccolo, F., Jeanpierre, M., Anderson, R.D., Lim, L.E., Lee, J.C., Tomé, F.M., Romero, N.B. Cell (1994)
- Clinical heterogeneity of adhalin deficiency. Morandi, L., Barresi, R., Di Blasi, C., Jung, D., Sunada, Y., Confalonieri, V., Dworzak, F., Mantegazza, R., Antozzi, C., Jarre, L., Pini, A., Gobbi, G., Bianchi, C., Cornelio, F., Campbell, K.P., Mora, M. Ann. Neurol. (1996)
- Structural rearrangements in active and inactive forms of hydrogenase from Thiocapsa roseopersicina. Kovács, K.L., Tigyi, G., Thanh, L.T., Lakatos, S., Kiss, Z., Bagyinka, C. J. Biol. Chem. (1991)
- Inducible expression of suicide genes in Leishmania donovani amastigotes. Ghedin, E., Charest, H., Zhang, W.W., Debrabant, A., Dwyer, D., Matlashewski, G. J. Biol. Chem. (1998)
- The fusion glycoprotein of human respiratory syncytial virus facilitates virus attachment and infectivity via an interaction with cellular heparan sulfate. Feldman, S.A., Audet, S., Beeler, J.A. J. Virol. (2000)
- Polysaccharide binding potential of the human A2 or A18 kappa light chain homologues. Reason, D.C., Wagner, T.C., Tang, V.R., Moulton, K.D., Lucas, A.H. Infect. Immun. (1999)
- Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). Roberds, S.L., Anderson, R.D., Ibraghimov-Beskrovnaya, O., Campbell, K.P. J. Biol. Chem. (1993)
- Phenotypic Correction of alpha-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector. Fougerousse, F., Bartoli, M., Poupiot, J., Arandel, L., Durand, M., Guerchet, N., Gicquel, E., Danos, O., Richard, I. Mol. Ther. (2007)
- Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. Romero, N.B., Tomé, F.M., Leturcq, F., el Kerch, F.E., Azibi, K., Bachner, L., Anderson, R.D., Roberds, S.L., Campbell, K.P., Fardeau, M. C. R. Acad. Sci. III, Sci. Vie (1994)
- The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. Hayashi, Y.K., Mizuno, Y., Yoshida, M., Nonaka, I., Ozawa, E., Arahata, K. Neurology (1995)
- Electron microscopic observations of triple immunogold labelling for dystrophin, beta-dystroglycan and adhalin in human skeletal myofibers. Inoue, M., Wakayama, Y., Murahashi, M., Shibuya, S., Jimi, T., Kojima, H., Oniki, H. Acta Neuropathol. (1996)
- Dystrophin and the dystrophin-associated glycoprotein, beta-dystroglycan, co-localize in photoreceptor synaptic complexes of the human retina. Drenckhahn, D., Holbach, M., Ness, W., Schmitz, F., Anderson, L.V. Neuroscience (1996)
- Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. Hackman, P., Juvonen, V., Sarparanta, J., Penttinen, M., Aärimaa, T., Uusitalo, M., Auranen, M., Pihko, H., Alén, R., Junes, M., Lönnqvist, T., Kalimo, H., Udd, B. Muscle Nerve (2005)
- Towards an understanding of the dystrophin-glycoprotein complex: linkage between the extracellular matrix and the membrane cytoskeleton in muscle fibers. Ohlendieck, K. Eur. J. Cell Biol. (1996)
- Theoretical studies on electron delocalization in diaminoguanidine. Bharatam, P.V., Iqbal, P. Journal of computational chemistry. (2006)
- Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin. Higuchi, I., Yamada, H., Fukunaga, H., Iwaki, H., Okubo, R., Nakagawa, M., Osame, M., Roberds, S.L., Shimizu, T., Campbell, K.P. J. Clin. Invest. (1994)
- Multidrug resistance and the lung resistance-related protein in human colon carcinoma SW-620 cells. Kitazono, M., Sumizawa, T., Takebayashi, Y., Chen, Z.S., Furukawa, T., Nagayama, S., Tani, A., Takao, S., Aikou, T., Akiyama, S. J. Natl. Cancer Inst. (1999)
- A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Bashir, R., Strachan, T., Keers, S., Stephenson, A., Mahjneh, I., Marconi, G., Nashef, L., Bushby, K.M. Hum. Mol. Genet. (1994)
- Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach. Comerlato, E.A., Scola, R.H., Werneck, L.C. Arquivos de neuro-psiquiatria. (2005)
- Recent advances in diagnosis of the childhood muscular dystrophies. Jones, K.J., North, K.N. Journal of paediatrics and child health. (1997)
- Characteristic expression of cell adhesion molecules in adhalin deficiency. Higuchi, I., Fukunaga, H., Motokura, F., Goto, T., Niiyama, N., Inose, M., Izumi, K., Ohkubo, R., Nakagawa, M., Arimura, K., Osame, M. J. Neurol. Sci. (1996)
- Sarcoglycan complex is selectively lost in dystrophic hamster muscle. Mizuno, Y., Noguchi, S., Yamamoto, H., Yoshida, M., Nonaka, I., Hirai, S., Ozawa, E. Am. J. Pathol. (1995)
- Purification and partial sequencing of the nuclear autoantigen RA33 shows that it is indistinguishable from the A2 protein of the heterogeneous nuclear ribonucleoprotein complex. Steiner, G., Hartmuth, K., Skriner, K., Maurer-Fogy, I., Sinski, A., Thalmann, E., Hassfeld, W., Barta, A., Smolen, J.S. J. Clin. Invest. (1992)
- The human platelet alloantigens, PlA1 and PlA2, are associated with a leucine33/proline33 amino acid polymorphism in membrane glycoprotein IIIa, and are distinguishable by DNA typing. Newman, P.J., Derbes, R.S., Aster, R.H. J. Clin. Invest. (1989)