SGCD

SGCD

Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein), also known as SGCD, is a human gene.cite web | title = Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6444| accessdate = ]

PBB_Summary
section_title =
summary_text = The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. The mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed.cite web | title = Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6444| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Passos-Bueno MR, Moreira ES, Vainzof M, "et al." |title=Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. |journal=Hum. Mol. Genet. |volume=5 |issue= 6 |pages= 815–20 |year= 1996 |pmid= 8776597 |doi=
*cite journal | author=Nigro V, de Sá Moreira E, Piluso G, "et al." |title=Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. |journal=Nat. Genet. |volume=14 |issue= 2 |pages= 195–8 |year= 1996 |pmid= 8841194 |doi= 10.1038/ng1096-195
*cite journal | author=Nigro V, Piluso G, Belsito A, "et al." |title=Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. |journal=Hum. Mol. Genet. |volume=5 |issue= 8 |pages= 1179–86 |year= 1997 |pmid= 8842738 |doi=
*cite journal | author=Hillier LD, Lennon G, Becker M, "et al." |title=Generation and analysis of 280,000 human expressed sequence tags. |journal=Genome Res. |volume=6 |issue= 9 |pages= 807–28 |year= 1997 |pmid= 8889549 |doi=
*cite journal | author=Jung D, Duclos F, Apostol B, "et al." |title=Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. |journal=J. Biol. Chem. |volume=271 |issue= 50 |pages= 32321–9 |year= 1997 |pmid= 8943294 |doi=
*cite journal | author=Moreira ES, Vainzof M, Marie SK, "et al." |title=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. |journal=J. Med. Genet. |volume=35 |issue= 11 |pages= 951–3 |year= 1999 |pmid= 9832045 |doi=
*cite journal | author=Chan YM, Bönnemann CG, Lidov HG, Kunkel LM |title=Molecular organization of sarcoglycan complex in mouse myotubes in culture. |journal=J. Cell Biol. |volume=143 |issue= 7 |pages= 2033–44 |year= 1999 |pmid= 9864373 |doi=
*cite journal | author=Li J, Dressman D, Tsao YP, "et al." |title=rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy. |journal=Gene Ther. |volume=6 |issue= 1 |pages= 74–82 |year= 1999 |pmid= 10341878 |doi= 10.1038/sj.gt.3300830
*cite journal | author=Coral-Vazquez R, Cohn RD, Moore SA, "et al." |title=Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. |journal=Cell |volume=98 |issue= 4 |pages= 465–74 |year= 1999 |pmid= 10481911 |doi=
*cite journal | author=Liu LA, Engvall E |title=Sarcoglycan isoforms in skeletal muscle. |journal=J. Biol. Chem. |volume=274 |issue= 53 |pages= 38171–6 |year= 2000 |pmid= 10608889 |doi=
*cite journal | author=Thompson TG, Chan YM, Hack AA, "et al." |title=Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. |journal=J. Cell Biol. |volume=148 |issue= 1 |pages= 115–26 |year= 2000 |pmid= 10629222 |doi=
*cite journal | author=Duggan DJ, Manchester D, Stears KP, "et al." |title=Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). |journal=Neurogenetics |volume=1 |issue= 1 |pages= 49–58 |year= 2000 |pmid= 10735275 |doi=
*cite journal | author=Yoshida M, Hama H, Ishikawa-Sakurai M, "et al." |title=Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. |journal=Hum. Mol. Genet. |volume=9 |issue= 7 |pages= 1033–40 |year= 2000 |pmid= 10767327 |doi=
*cite journal | author=Radojevic V, Lin S, Burgunder JM |title=Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture. |journal=Cell Tissue Res. |volume=300 |issue= 3 |pages= 447–57 |year= 2000 |pmid= 10928275 |doi=
*cite journal | author=Crosbie RH, Lim LE, Moore SA, "et al." |title=Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. |journal=Hum. Mol. Genet. |volume=9 |issue= 13 |pages= 2019–27 |year= 2000 |pmid= 10942431 |doi=
*cite journal | author=Tsubata S, Bowles KR, Vatta M, "et al." |title=Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. |journal=J. Clin. Invest. |volume=106 |issue= 5 |pages= 655–62 |year= 2000 |pmid= 10974018 |doi=
*cite journal | author=Barresi R, Moore SA, Stolle CA, "et al." |title=Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38554–60 |year= 2001 |pmid= 10993904 |doi= 10.1074/jbc.M007799200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Sylvius N, Duboscq-Bidot L, Bouchier C, "et al." |title=Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy. |journal=Am. J. Med. Genet. A |volume=120 |issue= 1 |pages= 8–12 |year= 2004 |pmid= 12794684 |doi= 10.1002/ajmg.a.20003
*cite journal | author=Guyon JR, Kudryashova E, Potts A, "et al." |title=Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans. |journal=Muscle Nerve |volume=28 |issue= 4 |pages= 472–83 |year= 2003 |pmid= 14506720 |doi= 10.1002/mus.10465

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