Summary: A family of transmembrane dystrophin-associated proteins that play a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.

Top Publications

  1. Carmignac V, Durbeej M. Cell-matrix interactions in muscle disease. J Pathol. 2012;226:200-18 pubmed publisher
    ..In this review we introduce laminins, collagens, dystroglycan, integrins, dystrophin and sarcoglycans. Mutations in corresponding genes cause various forms of muscular dystrophy...
  2. Kobuke K, Piccolo F, Garringer K, Moore S, Sweezer E, Yang B, et al. A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice. Hum Mol Genet. 2008;17:1201-13 pubmed publisher
    ..Our study presents an unexpected difference in the behavior of a missense-mutated protein in mice versus human patients, and emphasizes the need to understand species-specific protein quality control systems. ..
  3. Bartoli M, Gicquel E, Barrault L, Soheili T, Malissen M, Malissen B, et al. Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. Hum Mol Genet. 2008;17:1214-21 pubmed publisher
    ..This suggests a therapeutic approach for LGMD2D patients carrying mutations that impair alpha-sarcoglycan trafficking...
  4. Serose A, Salmon A, Fiszman M, Fromes Y. Short-term treatment using insulin-like growth factor-1 (IGF-1) improves life expectancy of the delta-sarcoglycan deficient hamster. J Gene Med. 2006;8:1048-55 pubmed
    ..This study is the first one reporting beneficial effects of IGF-1 treatment on survival of an animal model presenting DCM. Our results raise hopes for a new therapeutic approach of this pathology. ..
  5. Kato Y, Iwase M, Takagi K, Nishizawa T, Kanazawa H, Matsushita A, et al. Differential myolysis of myocardium and skeletal muscle in hamsters with dilated cardiomyopathy: beneficial protective effect of diltiazem. Circ J. 2006;70:1497-502 pubmed
    ..These initial cardiac events might involve coronary spasm and/or calcium overload in the myocardium. ..
  6. Sciorati C, Galvez B, Brunelli S, Tagliafico E, Ferrari S, Cossu G, et al. Ex vivo treatment with nitric oxide increases mesoangioblast therapeutic efficacy in muscular dystrophy. J Cell Sci. 2006;119:5114-23 pubmed
    ..We conclude that NO donors exert multiple beneficial effects on mesoangioblasts that may be used to increase their efficacy in cell therapy of muscular dystrophies. ..
  7. Ueda H, Ueda K, Baba T, Ohno S. delta- and gamma-Sarcoglycan localization in the sarcoplasmic reticulum of skeletal muscle. J Histochem Cytochem. 2001;49:529-38 pubmed
    b>Sarcoglycans are transmembrane proteins that are members of the dystrophin complex. Sarcoglycans cluster together to form a complex, which is localized in the cell membrane of skeletal, cardiac, and smooth muscle fibers...
  8. Wheeler M, Korcarz C, Collins K, Lapidos K, Hack A, Lyons M, et al. Secondary coronary artery vasospasm promotes cardiomyopathy progression. Am J Pathol. 2004;164:1063-71 pubmed
    ..30 ml/minute/g versus 0.67 +/- 0.16 ml/minute/g, P < 0.05). These data indicate that secondary vasospasm contributes to the development of cardiomyopathy and is an important therapeutic target to limit cardiomyopathy progression. ..
  9. Guttinger M, Tafi E, Battaglia M, Coletta M, Cossu G. Allogeneic mesoangioblasts give rise to alpha-sarcoglycan expressing fibers when transplanted into dystrophic mice. Exp Cell Res. 2006;312:3872-9 pubmed

More Information


  1. Bonuccelli G, Sotgia F, Schubert W, Park D, Frank P, Woodman S, et al. Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins. Am J Pathol. 2003;163:1663-75 pubmed
    ..Thus, the current study opens new and important avenues in our understanding of the pathogenesis of DMD. Most importantly, these new findings may have clinical implications for the pharmacological treatment of patients with DMD. ..
  2. Nakamura T, Iwata Y, Sampaolesi M, Hanada H, Saito N, Artman M, et al. Stretch-activated cation channels in skeletal muscle myotubes from sarcoglycan-deficient hamsters. Am J Physiol Cell Physiol. 2001;281:C690-9 pubmed
    ..6 hamster myotubes. These results suggest a possible mechanism by which cell damage might occur in this animal model of muscular dystrophy. ..
  3. Mendell J, Rodino Klapac L, Rosales X, Coley B, Galloway G, Lewis S, et al. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol. 2010;68:629-38 pubmed publisher
    ..The merit of a muscle-specific tMCK promoter, not previously used in a clinical trial, was evident, and the potential for reversal of disease was displayed. ..
  4. Crosbie R, Lim L, Moore S, Hirano M, Hays A, Maybaum S, et al. Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Hum Mol Genet. 2000;9:2019-27 pubmed
    ..a novel tetraspan-like protein, is also lost in patients with either a complete or partial loss of the sarcoglycans. In particular, sarcospan was absent in a gamma-sarcoglycanopathy patient with normal levels of alpha-, beta- ..
  5. Shiga K, Yoshioka H, Matsumiya T, Kimura I, Takeda S, Imamura M. Zeta-sarcoglycan is a functional homologue of gamma-sarcoglycan in the formation of the sarcoglycan complex. Exp Cell Res. 2006;312:2083-92 pubmed
    The sarcoglycans (SGs), transmembrane components of the dystrophin-associated glycoprotein complex, are stable and functional only when they assemble into a tetrameric complex in muscle cells...
  6. Gastaldello S, D Angelo S, Franzoso S, Fanin M, Angelini C, Betto R, et al. Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan. Am J Pathol. 2008;173:170-81 pubmed publisher
    ..on human embryonic kidney (HEK) 293 cells, constitutively expressing three (beta, gamma, and delta) of the four sarcoglycans. In these betagammadelta-HEK cells, the lack of alpha-sarcoglycan prevented complex formation and cell surface ..
  7. Shi W, Chen Z, Schottenfeld J, Stahl R, Kunkel L, Chan Y. Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. Muscle Nerve. 2004;29:409-19 pubmed
    Mutations in sarcoglycans (SG) have been reported to cause autosomal-recessive limb-girdle muscular dystrophy (LGMD) and dilated cardiomyopathy...
  8. Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen J, Barresi R, et al. Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?. Neuromuscul Disord. 2008;18:934-41 pubmed publisher
    ..Reduced or absent sarcolemmal expression of one or all of the four sarcoglycans (alpha-, beta-, gamma-, delta-sarcoglycan) can be found in patients with limb-girdle muscular dystrophy 2C-F (..
  9. Guyon J, Kudryashova E, Potts A, Dalkilic I, Brosius M, Thompson T, et al. Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans. Muscle Nerve. 2003;28:472-83 pubmed
    ..127 amino acids from FLNC, a protein that mimics FLNC after C3 cleavage, abolishes this interaction with the sarcoglycans. These studies confirm that C3 can cleave FLNC in vitro and suggest that FLNC may be an in vivo substrate for ..
  10. Ozawa E, Mizuno Y, Hagiwara Y, Sasaoka T, Yoshida M. Molecular and cell biology of the sarcoglycan complex. Muscle Nerve. 2005;32:563-76 pubmed
    ..Finally, we stress that the SG complex cannot work by itself and works in a larger complex system, called the transverse fixation system, which forms an array of molecules responsible for various muscular dystrophies. ..
  11. Sakamoto A, Ono K, Abe M, Jasmin G, Eki T, Murakami Y, et al. 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. Proc Natl Acad Sci U S A. 1997;94:13873-8 pubmed
    ..The present study not only identifies CM hamster as a valuable animal model for studying the function of delta-SG in vivo but also provides a genetic target for diagnosis and treatment of human CM...
  12. Cupler E, Bohlega S, Hessler R, McLean D, Stigsby B, Ahmad J. Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. Neuromuscul Disord. 1998;8:321-6 pubmed
    ..The remaining three familial cases had elevated serum creatine kinase levels and two also had early myopathic findings by EMG suggestive of MM. ..
  13. Barresi R, Moore S, Stolle C, Mendell J, Campbell K. Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. J Biol Chem. 2000;275:38554-60 pubmed
    ..The sarcoglycans, alpha, beta, gamma, and delta, are mutually dependent with regard to their localization at the sarcolemma, and ..
  14. Wallace G, Lapidos K, Kenik J, McNally E. Long-term survival of transplanted stem cells in immunocompetent mice with muscular dystrophy. Am J Pathol. 2008;173:792-802 pubmed publisher
  15. Fraysse B, Nagi S, Boher B, Ragot H, Laine J, Salmon A, et al. Ca2+ overload and mitochondrial permeability transition pore activation in living delta-sarcoglycan-deficient cardiomyocytes. Am J Physiol Cell Physiol. 2010;299:C706-13 pubmed publisher
    ..In this process Ca2+ overload-induced MPTP activation and mitochondrial disorganization may have an important role. ..
  16. Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak C, et al. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet. 2006;43:394-400 pubmed
    ..This large cohort of index patients shows that SGCE mutations are primarily found in patients with M-D and to a lesser extent E-M, but are present in only 30% of these patients combined (M-D and E-M). ..
  17. Rafii M, Hagiwara H, Mercado M, Seo N, Xu T, Dugan T, et al. Biglycan binds to alpha- and gamma-sarcoglycan and regulates their expression during development. J Cell Physiol. 2006;209:439-47 pubmed
    ..The DAPC contains two transmembrane subcomplexes-the dystroglycans and the sarcoglycans. Although several extracellular binding partners have been identified for the dystroglycans, none have been ..
  18. Bogdanovich S, McNally E, Khurana T. Myostatin blockade improves function but not histopathology in a murine model of limb-girdle muscular dystrophy 2C. Muscle Nerve. 2008;37:308-16 pubmed
  19. Minetti G, Colussi C, Adami R, Serra C, Mozzetta C, Parente V, et al. Functional and morphological recovery of dystrophic muscles in mice treated with deacetylase inhibitors. Nat Med. 2006;12:1147-50 pubmed
    ..These results provide a rationale for using deacetylase inhibitors in the pharmacological therapy of muscular dystrophies...
  20. Bauer R, Blain A, Greally E, Lochmuller H, Bushby K, MacGowan G, et al. Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism. Neuromuscul Disord. 2010;20:21-8 pubmed publisher
    ..This study demonstrates the beneficial effects of oral spironolactone on cardiac haemodynamics in Sgcd-null mice and its ability to prevent some of the adverse effects of glucocorticoids. ..
  21. Yokoi F, Yang G, Li J, DeAndrade M, Zhou T, Li Y. Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce. J Biochem. 2010;148:459-66 pubmed publisher
    ..Examining additional mutations in other dystonia genes may be beneficial to predict the onset in DYT1 mutation carriers. ..
  22. Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet. 2001;29:66-9 pubmed
    ..Pedigree analysis shows a marked difference in penetrance depending on the parental origin of the disease allele. This is indicative of a maternal imprinting mechanism, which has been demonstrated in the mouse epsilon-sarcoglycan gene. ..
  23. Duclos F, Straub V, Moore S, Venzke D, Hrstka R, Crosbie R, et al. Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J Cell Biol. 1998;142:1461-71 pubmed
    ..The Sgca-deficient mice will be a valuable model for elucidating the pathogenesis of sarcoglycan deficient limb-girdle muscular dystrophies and for the development of therapeutic strategies for this disease. ..
  24. Yokoi F, Dang M, Mitsui S, Li Y. Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain. FEBS Lett. 2005;579:4822-8 pubmed
    ..Our results provide a better basis for diagnosis and understanding of the pathogenesis of myoclonus-dystonia. ..
  25. Boito C, Fanin M, Siciliano G, Angelini C, Pegoraro E. Novel sarcoglycan gene mutations in a large cohort of Italian patients. J Med Genet. 2003;40:e67 pubmed
  26. Ritz K, van Schaik B, Jakobs M, van Kampen A, Aronica E, Tijssen M, et al. SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?. Eur J Hum Genet. 2011;19:438-44 pubmed publisher
    ..Its expression was low in the globus pallidus and moderate to low in caudate nucleus, putamen and substantia nigra. Our data are compatible with a model in which dysfunction of the cerebellum is involved in the pathogenesis of M-D. ..
  27. McNally E, Ly C, Kunkel L. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. FEBS Lett. 1998;422:27-32 pubmed
    The dystrophin-glycoprotein complex (DGC) is critical for muscle membrane stability. The sarcoglycans are transmembrane proteins within the DGC, and the function of the sarcoglycans is unknown...
  28. Ikeda Y, Gu Y, Iwanaga Y, Hoshijima M, Oh S, Giordano F, et al. Restoration of deficient membrane proteins in the cardiomyopathic hamster by in vivo cardiac gene transfer. Circulation. 2002;105:502-8 pubmed
    ..The approach should be useful for assessing effects of expressing other genes that influence the structure or function of the normal and failing heart. ..
  29. Hack A, Lam M, Cordier L, Shoturma D, Ly C, Hadhazy M, et al. Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci. 2000;113 ( Pt 14):2535-44 pubmed
    ..and dystrophin to muscle membrane stability and muscular dystrophy, we compared muscle lacking specific sarcoglycans or dystrophin...
  30. Wei W, Howard P, Zderic S, Macarak E. Beta and gamma-sarcoglycans are decreased in the detrusor smooth muscle cells of the partially obstructed rabbit bladder. J Urol. 2008;179:2052-6 pubmed publisher
    We evaluated and quantified the levels of sarcoglycans present in the detrusor muscle layer of rabbits with partial bladder outlet obstruction. Rabbits underwent surgery, as previously described, to partially obstruct the urethra...
  31. Tsubata S, Bowles K, Vatta M, Zintz C, Titus J, Muhonen L, et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest. 2000;106:655-62 pubmed
    ..These data suggest that delta-sarcoglycan is a disease-causing gene responsible for familial and idiopathic DCM and lend support to our "final common pathway" hypothesis that DCM is a cytoskeletalopathy. ..
  32. Cheng L, Guo X, Yang X, Chong M, Cheng J, Li G, et al. Delta-sarcoglycan is necessary for early heart and muscle development in zebrafish. Biochem Biophys Res Commun. 2006;344:1290-9 pubmed
    ..Mutations in sarcoglycans are known to be involved in limb-girdle muscular dystrophy (LGMD) and dilated cardiomyopathy (DCM) in humans...
  33. Chan P, Gonzalez Maeso J, Ruf F, Bishop D, Hof P, Sealfon S. Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain. J Comp Neurol. 2005;482:50-73 pubmed
    ..The distribution of epsilon-sarcoglycan in the mouse brain suggests that the symptom complex of M-D may be related to the effects of decreased epsilon-sarcoglycan activity on the development or function of monoaminergic neurons. ..
  34. Lapidos K, Chen Y, Earley J, Heydemann A, Huber J, Chien M, et al. Transplanted hematopoietic stem cells demonstrate impaired sarcoglycan expression after engraftment into cardiac and skeletal muscle. J Clin Invest. 2004;114:1577-85 pubmed
    ..The inability of BM-SP cells to express this protein severely limits their utility for cardiac and skeletal muscle regeneration. ..
  35. Wheeler M, Allikian M, Heydemann A, Hadhazy M, Zarnegar S, McNally E. Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy. J Clin Invest. 2004;113:668-75 pubmed
    ..Therefore, we propose that cytokine release from damaged cardiomyocytes can feed back to produce vascular spasm. Moreover, vascular spasm feeds forward to produce additional cardiac damage...
  36. Holt K, Lim L, Straub V, Venzke D, Duclos F, Anderson R, et al. Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer. Mol Cell. 1998;1:841-8 pubmed
    ..In summary, the sarcoglycan complex is requisite for the maintenance of sarcolemmal integrity, and primary mutations in individual sarcoglycan components can be corrected in vivo. ..
  37. Chen J, Skinner M, Shi W, Yu Q, Wildeman A, Chan Y. The 16 kDa subunit of vacuolar H+-ATPase is a novel sarcoglycan-interacting protein. Biochim Biophys Acta. 2007;1772:570-9 pubmed
    ..Mutations in any of the four sarcoglycans cause limb-girdle muscular dystrophies (LGMD)...
  38. Bartoli M, Poupiot J, Vulin A, Fougerousse F, Arandel L, Daniele N, et al. AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency. Gene Ther. 2007;14:733-40 pubmed
    ..In calpain 3-deficient mice, a boost in muscle mass and an increase in absolute force were obtained, suggesting that myostatin inhibition could constitute a therapeutic strategy in this predominantly atrophic disorder. ..
  39. Misbahuddin A, Placzek M, Lennox G, Taanman J, Warner T. Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene. Mov Disord. 2007;22:1173-5 pubmed
    ..Molecular genetic analysis revealed a heterozygous point mutation in the epsilon-sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression...
  40. Brunelli S, Sciorati C, D Antona G, Innocenzi A, Covarello D, Galvez B, et al. Nitric oxide release combined with nonsteroidal antiinflammatory activity prevents muscular dystrophy pathology and enhances stem cell therapy. Proc Natl Acad Sci U S A. 2007;104:264-9 pubmed
  41. Yokoi F, Dang M, Zhou T, Li Y. Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models. Hum Mol Genet. 2012;21:916-25 pubmed publisher
    ..Development of therapies targeting the striatum to compensate for the loss of ?-sarcoglycan function may rescue the motor deficits in DYT11 M-D patients. ..
  42. Georgieva B, Todorova A, Tournev I, Mitev V, Kremensky I. C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community. Clin Genet. 2004;66:467-72 pubmed
    ..Such regions should be with priority in the Bulgarian healthcare system for performing a carrier-screening program...
  43. Townsend D, Yasuda S, McNally E, Metzger J. Distinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex. FASEB J. 2011;25:3106-14 pubmed publisher
    ..dystrophy (DMD) and limb girdle muscular dystrophy (LGMD) 2C-F result from the loss of dystrophin and the sarcoglycans, respectively...
  44. Fougerousse F, Bartoli M, Poupiot J, Arandel L, Durand M, Guerchet N, et al. Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector. Mol Ther. 2007;15:53-61 pubmed
    ..Our results establish the feasibility for AAV-mediated alpha-sarcoglycan gene transfer as a therapeutic approach. ..
  45. Li D, Long C, Yue Y, Duan D. Sub-physiological sarcoglycan expression contributes to compensatory muscle protection in mdx mice. Hum Mol Genet. 2009;18:1209-20 pubmed publisher
    b>Sarcoglycans are a group of single-pass transmembrane glycoproteins. In striated muscle, sarcoglycans interact with dystrophin and other dystrophin-associated proteins (DAPs) to form the dystrophin-associated glycoprotein complex (DGC)...
  46. Straub V, Bushby K. Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies. Neurotherapeutics. 2008;5:619-26 pubmed publisher
  47. Li J, Dressman D, Tsao Y, Sakamoto A, Hoffman E, Xiao X. rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy. Gene Ther. 1999;6:74-82 pubmed
    ..These results support the feasibility of rAAV vector's application to treat LGMD by means of direct in vivo gene transfer. ..
  48. Anastasi G, Cutroneo G, Trimarchi F, Santoro G, Bruschetta D, Bramanti P, et al. Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study. Int J Mol Med. 2004;14:989-99 pubmed
    ..are a proteic machinery made up of DGC and vinculin-talin-integrin system, also revealing the colocalization of sarcoglycans and integrins in adult human skeletal muscle...
  49. Anastasi G, Cutroneo G, Rizzo G, Favaloro A. Sarcoglycan subcomplex in normal and pathological human muscle fibers. Eur J Histochem. 2007;51 Suppl 1:29-33 pubmed
    b>Sarcoglycans are a sub-complex of transmembrane proteins which are part of the dystrophin-glycoprotein complex (DGC). They are expressed above all in the skeletal, cardiac and smooth muscle...
  50. Grabowski M, Zimprich A, Lorenz Depiereux B, Kalscheuer V, Asmus F, Gasser T, et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet. 2003;11:138-44 pubmed
    ..We investigated one affected female that inherited the mutated allele from her mother. Surprisingly, we found the paternal wild type allele expressed whereas the mutated maternal allele was not detectable in peripheral blood cDNA. ..
  51. Yokoi F, Dang M, Yang G, Li J, Doroodchi A, Zhou T, et al. Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models. Behav Brain Res. 2012;227:12-20 pubmed publisher
  52. Ettinger A, Feng G, Sanes J. epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. J Biol Chem. 1997;272:32534-8 pubmed
    The sarcoglycans are transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix in adult muscle fibers...
  53. Yoshida H, Takahashi M, Koshimizu M, Tanonaka K, Oikawa R, Toyo oka T, et al. Decrease in sarcoglycans and dystrophin in failing heart following acute myocardial infarction. Cardiovasc Res. 2003;59:419-27 pubmed
    Genetic defects in several sarcoglycans (SGs) and dystrophin (Dys) play a critical role in cardiomyopathy...
  54. Sciorati C, Buono R, Azzoni E, Casati S, Ciuffreda P, D Angelo G, et al. Co-administration of ibuprofen and nitric oxide is an effective experimental therapy for muscular dystrophy, with immediate applicability to humans. Br J Pharmacol. 2010;160:1550-60 pubmed publisher
    ..Our results open the possibility of immediate clinical testing of a combination of ISDN and ibuprofen in dystrophic patients, as both components are approved for use in humans, with a good safety profile. ..
  55. Ortega P, Moran A, Fernandez Marcelo T, de Juan C, Frias C, Lopez Asenjo J, et al. MMP-7 and SGCE as distinctive molecular factors in sporadic colorectal cancers from the mutator phenotype pathway. Int J Oncol. 2010;36:1209-15 pubmed
  56. Groh S, Zong H, Goddeeris M, Lebakken C, Venzke D, Pessin J, et al. Sarcoglycan complex: implications for metabolic defects in muscular dystrophies. J Biol Chem. 2009;284:19178-82 pubmed publisher
    The sarcoglycans are known as an integral subcomplex of the dystrophin glycoprotein complex, the function of which is best characterized in skeletal muscle in relation to muscular dystrophies...
  57. Barton E, Morris L, Kawana M, Bish L, Toursel T. Systemic administration of L-arginine benefits mdx skeletal muscle function. Muscle Nerve. 2005;32:751-60 pubmed
    ..Together, these results show that L-arginine treatment can be beneficial to mdx muscle function, perhaps through a combination of enhanced calcium handling and increased utrophin, thereby decreasing muscle degeneration...
  58. Allikian M, Bhabha G, Dospoy P, Heydemann A, Ryder P, Earley J, et al. Reduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutants. Hum Mol Genet. 2007;16:2933-43 pubmed
    ..Together, these data demonstrate the essential nature of the transmembrane and extracellular domains of Drosophila delta-sarcoglycan for normal muscle structure and function. ..
  59. Politano L, Nigro V, Passamano L, Petretta V, Comi L, Papparella S, et al. Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromuscul Disord. 2001;11:178-85 pubmed
    ..complex that comprises five distinct transmembrane proteins called alpha-, beta-, gamma-, delta-and epsilon-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete ..
  60. Hack A, Cordier L, Shoturma D, Lam M, Sweeney H, McNally E. Muscle degeneration without mechanical injury in sarcoglycan deficiency. Proc Natl Acad Sci U S A. 1999;96:10723-8 pubmed
    ..Thus, a nonmechanical mechanism, perhaps involving some unknown signaling function, likely is responsible for muscular dystrophy where sarcoglycan is deficient. ..
  61. Allikian M, McNally E. Processing and assembly of the dystrophin glycoprotein complex. Traffic. 2007;8:177-83 pubmed
    ..Normal sarcolemmal function requires proper DGC synthesis and positioning, and perturbation of the DGC leads to muscle membrane instability and disease. ..
  62. Bauer R, MacGowan G, Blain A, Bushby K, Straub V. Steroid treatment causes deterioration of myocardial function in the {delta}-sarcoglycan-deficient mouse model for dilated cardiomyopathy. Cardiovasc Res. 2008;79:652-61 pubmed publisher
    ..On the basis of these findings, although mouse models may not completely replicate the human situation for LGMD2F, we conclude that careful cardiac monitoring is clearly indicated in patients on long-term corticosteroids. ..
  63. Moreira E, Vainzof M, Suzuki O, Pavanello R, Zatz M, Passos Bueno M. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. J Med Genet. 2003;40:E12 pubmed
  64. Heydemann A, Demonbreun A, Hadhazy M, Earley J, McNally E. Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. Hum Mol Genet. 2007;16:355-63 pubmed
  65. Draviam R, Billington L, Senchak A, Hoffman E, Watkins S. Confocal analysis of the dystrophin protein complex in muscular dystrophy. Muscle Nerve. 2001;24:262-72 pubmed
    ..patients showed poor localization of extracellular matrix proteins in addition to a complete absence of the sarcoglycans. Merosin-deficient patients showed relatively normal immunostaining levels of all other members of the DPC...
  66. Chen J, Shi W, Zhang Y, Sokol R, Cai H, Lun M, et al. Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting. Exp Cell Res. 2006;312:1610-25 pubmed
    Mutations in sarcoglycans have been reported to cause autosomal-recessive limb-girdle muscular dystrophies...
  67. Liu L, Vachon P, Kuang W, Xu H, Wewer U, Kylsten P, et al. Mouse adhalin: primary structure and expression during late stages of muscle differentiation in vitro. Biochem Biophys Res Commun. 1997;235:227-35 pubmed
    ..These data suggest that adhalin is highly specific for striated muscle and that it is linked with the formation of a fully functional muscle fiber. ..
  68. Allikian M, Hack A, Mewborn S, Mayer U, McNally E. Genetic compensation for sarcoglycan loss by integrin alpha7beta1 in muscle. J Cell Sci. 2004;117:3821-30 pubmed
  69. Straub V, Duclos F, Venzke D, Lee J, Cutshall S, Leveille C, et al. Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster. Am J Pathol. 1998;153:1623-30 pubmed
    ..6 hamster. Based on our results, we propose that loss of delta-sarcoglycan results in the impairment of sarcolemmal integrity, finally leading to muscular dystrophy and cardiomyopathy. ..
  70. Moreira E, Vainzof M, Marie S, Nigro V, Zatz M, Passos Bueno M. 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. J Med Genet. 1998;35:951-3 pubmed
    ..Interestingly, this new mutation is also associated with a severe clinical course. In addition, our results suggest that this form of severe AR LGMD is not very rare in our population. ..
  71. Sandonà D, Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med. 2009;11:e28 pubmed publisher
    ..These four sarcoglycans form a subcomplex that is closely linked to the major dystrophin-associated protein complex, which is essential ..
  72. Nishiyama A, Endo T, Takeda S, Imamura M. Identification and characterization of epsilon-sarcoglycans in the central nervous system. Brain Res Mol Brain Res. 2004;125:1-12 pubmed
    Alpha-, beta-, gamma-, and delta-sarcoglycans (SGs) are transmembrane glycoprotein components of the dystrophin-associated protein (DAP) complex, which is critical for the stability of the striated muscle cell membrane...
  73. Thompson T, Chan Y, Hack A, Brosius M, Rajala M, Lidov H, et al. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol. 2000;148:115-26 pubmed
    Mutations in genes encoding for the sarcoglycans, a subset of proteins within the dystrophin-glycoprotein complex, produce a limb-girdle muscular dystrophy phenotype; however, the precise role of this group of proteins in the skeletal ..
  74. Bonnemann C, Wong J, Jones K, Lidov H, Feener C, Shapiro F, et al. Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord. 2002;12:273-80 pubmed
    ..Complete immunohistochemical analysis with all available sarcoglycan antibodies, therefore, is a useful tool to guide the molecular genetic investigations that are necessary to arrive at the correct genetic diagnosis in a given case. ..
  75. Piras G, El Kharroubi A, Kozlov S, Escalante Alcalde D, Hernandez L, Copeland N, et al. Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines. Mol Cell Biol. 2000;20:3308-15 pubmed
    ..In addition, loss of expression of ZAC has been described for a number of breast and ovarian carcinomas, suggesting that ZAC is a potential tumor suppressor gene. ..
  76. Anastasi G, Cutroneo G, Santoro G, Arco A, Rizzo G, Trommino C, et al. Integrins, muscle agrin and sarcoglycans during muscular inactivity conditions: an immunohistochemical study. Eur J Histochem. 2006;50:327-36 pubmed
    b>Sarcoglycans are transmembrane proteins that seem to be functionally and pathologically as important as dystrophin...
  77. Sasaoka T, Imamura M, Araishi K, Noguchi S, Mizuno Y, Takagoshi N, et al. Pathological analysis of muscle hypertrophy and degeneration in muscular dystrophy in gamma-sarcoglycan-deficient mice. Neuromuscul Disord. 2003;13:193-206 pubmed
    ..The muscle pathology became more 'dystrophic' in mice over 1 year of age when there was a marked variation in fiber size with interstitial fibrosis. ..
  78. Assereto S, Stringara S, Sotgia F, Bonuccelli G, Broccolini A, Pedemonte M, et al. Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment. Am J Physiol Cell Physiol. 2006;290:C577-82 pubmed
    ..Am J Pathol 163: 1663-1675, 2003). Our present results may have important new implications for the possible pharmacological treatment of Duchenne or Becker muscular dystrophy in humans. ..
  79. Xiao J, Ledoux M. Cloning, developmental regulation and neural localization of rat epsilon-sarcoglycan. Brain Res Mol Brain Res. 2003;119:132-43 pubmed
    ..Our results suggest that epsilon-SG participates in the development of both neural and non-neural tissues and contributes to neuronal structure in the adult central nervous system. ..
  80. Draviam R, Shand S, Watkins S. The beta-delta-core of sarcoglycan is essential for deposition at the plasma membrane. Muscle Nerve. 2006;34:691-701 pubmed
    ..These data suggest that formation of the beta-delta-core may promote the export and deposition of sarcoglycan subcomplexes at the plasma membrane, and therefore identifies a mechanism for sarcoglycan transport. ..
  81. Arco A, Favaloro A, Gioffrè M, Santoro G, Speciale F, Vermiglio G, et al. Sarcoglycans in the normal and pathological breast tissue of humans: an immunohistochemical and molecular study. Cells Tissues Organs. 2012;195:550-62 pubmed publisher
    The sarcoglycan complex, consisting of ?-, ?-, ?-, ?- and ?-sarcoglycans, is a multimember transmembrane system providing a mechanosignaling connection from the cytoskeleton to the extracellular matrix...
  82. Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet. 2008;16:793-803 pubmed publisher