- SGCG
Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein), also known as SGCG, is a human
gene .cite web | title = Entrez Gene: SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6445| accessdate = ]PBB_Summary
section_title =
summary_text = Gamma-sarcoglycan is one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin, probably to provide a link between the membrane associated cytoskeleton and the extracellular matrix. Defects in the protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C).cite web | title = Entrez Gene: SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6445| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Noguchi S, McNally EM, Ben Othmane K, "et al." |title=Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. |journal=Science |volume=270 |issue= 5237 |pages= 819–22 |year= 1995 |pmid= 7481775 |doi=
*cite journal | author=Ben Othmane K, Speer MC, Stauffer J, "et al." |title=Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) |journal=Am. J. Hum. Genet. |volume=57 |issue= 3 |pages= 732–4 |year= 1995 |pmid= 7668303 |doi=
*cite journal | author=Jorde LB, Watkins WS, Viskochil D, "et al." |title=Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. |journal=Am. J. Hum. Genet. |volume=53 |issue= 5 |pages= 1038–50 |year= 1993 |pmid= 8105688 |doi=
*cite journal | author=Jung D, Leturcq F, Sunada Y, "et al." |title=Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. |journal=FEBS Lett. |volume=381 |issue= 1-2 |pages= 15–20 |year= 1996 |pmid= 8641426 |doi=
*cite journal | author=McNally EM, Passos-Bueno MR, Bönnemann CG, "et al." |title=Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. |journal=Am. J. Hum. Genet. |volume=59 |issue= 5 |pages= 1040–7 |year= 1996 |pmid= 8900232 |doi=
*cite journal | author=McNally EM, Duggan D, Gorospe JR, "et al." |title=Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. |journal=Hum. Mol. Genet. |volume=5 |issue= 11 |pages= 1841–7 |year= 1997 |pmid= 8923014 |doi=
*cite journal | author=Piccolo F, Jeanpierre M, Leturcq F, "et al." |title=A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. |journal=Hum. Mol. Genet. |volume=5 |issue= 12 |pages= 2019–22 |year= 1997 |pmid= 8968757 |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=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=Nowak KJ, Walsh P, Jacob RL, "et al." |title=Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. |journal=Neuromuscul. Disord. |volume=10 |issue= 2 |pages= 100–7 |year= 2000 |pmid= 10714584 |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=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=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=Wheeler MT, Zarnegar S, McNally EM |title=Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. |journal=Hum. Mol. Genet. |volume=11 |issue= 18 |pages= 2147–54 |year= 2003 |pmid= 12189167 |doi=
*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=Vermeer S, Verrips A, Willemsen MA, "et al." |title=Novel mutations in three patients with LGMD2C with phenotypic differences. |journal=Pediatr. Neurol. |volume=30 |issue= 4 |pages= 291–4 |year= 2004 |pmid= 15087111 |doi= 10.1016/j.pediatrneurol.2003.11.006
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=White SJ, Uitte de Willige S, Verbove D, "et al." |title=Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. |journal=Hum. Mutat. |volume=26 |issue= 1 |pages= 59 |year= 2006 |pmid= 15954112 |doi= 10.1002/humu.9347
*cite journal | author=Duncan DR, Kang PB, Rabbat JC, "et al." |title=A novel mutation in two families with limb-girdle muscular dystrophy type 2C. |journal=Neurology |volume=67 |issue= 1 |pages= 167–9 |year= 2006 |pmid= 16832103 |doi= 10.1212/01.wnl.0000223600.78363.dd
*cite journal | author=Rafii MS, Hagiwara H, Mercado ML, "et al." |title=Biglycan binds to alpha- and gamma-sarcoglycan and regulates their expression during development. |journal=J. Cell. Physiol. |volume=209 |issue= 2 |pages= 439–47 |year= 2006 |pmid= 16883602 |doi= 10.1002/jcp.20740PBB_Controls
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