Delta-sarcoglycan
Delta-sarcoglycan هوَ بروتين يُشَفر بواسطة جين SGCD في الإنسان.[1][2][3][4]
Sarcoglycan delta | |||||||
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المعرفات | |||||||
الأسماء المستعارة | delta-sarcoglycan, 35 kDa dystrophin-associated glycoprotein, dystrophin associated glycoprotein, delta sarcoglycan, delta-SG, SGCD, sarcoglycan, delta (35kDa dystrophin-associated glycoprotein), placental delta sarcoglycan, 35DAG | ||||||
معرفات خارجية | |||||||
أورثولوج | |||||||
الأنواع | الإنسان | الفأر | |||||
أنتريه | n/a | ||||||
Ensembl | n/a | n/a | |||||
يونيبروت |
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RefSeq (مرسال ر.ن.ا.) |
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RefSeq (بروتين) |
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الموقع (UCSC | n/a | ||||||
بحث ببمد | n/a | ||||||
ويكي بيانات | |||||||
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الوظيفة
المراجع
- "Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)"، مؤرشف من الأصل في 05 ديسمبر 2010.
- Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA (سبتمبر 2000)، "Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy"، J Clin Invest، 106 (5): 655–62، doi:10.1172/JCI9224، PMC 381284، PMID 10974018.
- Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M (ديسمبر 1996)، "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"، Hum Mol Genet، 5 (6): 815–20، doi:10.1093/hmg/5.6.815، PMID 8776597.
- Nigro V, de Sá Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M (نوفمبر 1996)، "Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene"، Nat Genet، 14 (2): 195–8، doi:10.1038/ng1096-195، PMID 8841194.
قراءة متعمقة
- Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G, Puca GA (1997)، "Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein"، Hum. Mol. Genet.، 5 (8): 1179–86، doi:10.1093/hmg/5.8.1179، PMID 8842738.
- Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque T, Favello A, Gish W, Hawkins M, Hultman M, Kucaba T, Lacy M, Le M, Le N, Mardis E, Moore B, Morris M, Parsons J, Prange C, Rifkin L, Rohlfing T, Schellenberg K, Bento Soares M, Tan F, Thierry-Meg J, Trevaskis E, Underwood K, Wohldman P, Waterston R, Wilson R, Marra M (1997)، "Generation and analysis of 280,000 human expressed sequence tags"، Genome Res.، 6 (9): 807–28، doi:10.1101/gr.6.9.807، PMID 8889549.
- Jung D, Duclos F, Apostol B, Straub V, Lee JC, Allamand V, Venzke DP, Sunada Y, Moomaw CR, Leveille CJ, Slaughter CA, Crawford TO, McPherson JD, Campbell KP (1997)، "Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy"، J. Biol. Chem.، 271 (50): 32321–9، doi:10.1074/jbc.271.50.32321، PMID 8943294.
- Moreira ES, Vainzof M, Marie SK, Nigro V, Zatz M, Passos-Bueno MR (1999)، "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.، 35 (11): 951–3، doi:10.1136/jmg.35.11.951، PMC 1051491، PMID 9832045.
- Chan YM, Bönnemann CG, Lidov HG, Kunkel LM (1999)، "Molecular organization of sarcoglycan complex in mouse myotubes in culture"، J. Cell Biol.، 143 (7): 2033–44، doi:10.1083/jcb.143.7.2033، PMC 2175228، PMID 9864373.
- Li J, Dressman D, Tsao YP, Sakamoto A, Hoffman EP, Xiao X (1999)، "rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy"، Gene Ther.، 6 (1): 74–82، doi:10.1038/sj.gt.3300830، PMID 10341878.
- Coral-Vazquez R, Cohn RD, Moore SA, Hill JA, Weiss RM, Davisson RL, Straub V, Barresi R, Bansal D, Hrstka RF, Williamson R, Campbell KP (1999)، "Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy"، Cell، 98 (4): 465–74، doi:10.1016/S0092-8674(00)81975-3، PMID 10481911.
- Liu LA, Engvall E (2000)، "Sarcoglycan isoforms in skeletal muscle"، J. Biol. Chem.، 274 (53): 38171–6، doi:10.1074/jbc.274.53.38171، PMID 10608889.
- Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM (2000)، "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein"، J. Cell Biol.، 148 (1): 115–26، doi:10.1083/jcb.148.1.115، PMC 3207142، PMID 10629222.
- Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP (2000)، "Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)"، Neurogenetics، 1 (1): 49–58، doi:10.1007/s100480050008، PMID 10735275.
- Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E (2000)، "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy"، Hum. Mol. Genet.، 9 (7): 1033–40، doi:10.1093/hmg/9.7.1033، PMID 10767327.
- Radojevic V, Lin S, Burgunder JM (2000)، "Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture"، Cell Tissue Res.، 300 (3): 447–57، doi:10.1007/s004410000213، PMID 10928275.
- Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tomé FM, Campbell KP (2000)، "Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions"، Hum. Mol. Genet.، 9 (13): 2019–27، doi:10.1093/hmg/9.13.2019، PMID 10942431.
- Barresi R, Moore SA, Stolle CA, Mendell JR, Campbell KP (2001)، "Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex"، J. Biol. Chem.، 275 (49): 38554–60، doi:10.1074/jbc.M007799200، PMID 10993904.
- Sylvius N, Duboscq-Bidot L, Bouchier C, Charron P, Benaiche A, Sébillon P, Komajda M, Villard E (2004)، "Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy"، Am. J. Med. Genet. A، 120 (1): 8–12، doi:10.1002/ajmg.a.20003، PMID 12794684.
- Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ (2003)، "Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans"، Muscle Nerve، 28 (4): 472–83، doi:10.1002/mus.10465، PMID 14506720.
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