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SGCG encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. Zusätzlich bieten wir Ihnen Sarcoglycan, gamma (35kDa Dystrophin-Associated Glycoprotein) Antikörper (43) und und viele weitere Produktgruppen zu diesem Protein an.
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This study showed that fifteen families were shown to carry SGCG variants in patient with early onset severe muscular dystrophy.
FADH2-dependent monooxygenase (SgcE6 and SgcC) that catalyzes the hydroxylation of a PCP (zeige PRCP Proteine)-tethered substrate
These results position archvillin (zeige SVIL Proteine) as a mechanically sensitive component of the dystrophin (zeige DMD Proteine) complex and demonstrate that signaling defects caused by loss of gamma-SG occur both at the sarcolemma and in the nucleus.
A report of two siblings with severe childhood onset limb-girdle muscular dystrophy type 2C supports the theory that the mutation G787A in the SGCG gene is a founder mutation.
Molecular epidemiologic methods were used to calculate the frequency of heterozygotes for this SGCG mutation in Moroccan newborns and to estimate the prevalence of LGMD2C in the Moroccan population.
Data suggest that an SNP in an intron of SGCG (rs9552911) is associated with type 2 diabetes [Genome-Wide Association Study in Sikh populations in India & Meta-Analysis]
The C allele of the c.-94C>G polymorphism in delta-sarcoglycan (zeige SGCD Proteine) is a risk factor for HCM, which is increased by the Amerindian component and can play an important role in the etiology and progression of disease in Mexican patients
four Greek Gypsy patients with limb girdle muscular dystrophy type 2C carried the same homozygous C283Y mutation in the gamma-sarcoglycan gene
The relative incidence of LGMD2C among Japanese Duchenne muscular dystrophy (zeige DMD Proteine)-like patients can be calculated as 1 in 161 patients suspected to have Duchenne muscular dystrophy (zeige DMD Proteine).
Clinical, histologic, and immunohistochemical characteristics of three children with limb-girdle muscular dystrophy type 2C. Two novel mutations in the gamma-sarcoglycan gene were present. We found phenotypic differences in two brothers.
Cleavage of beta-DG still occurred when both MMP-2 (zeige MMP2 Proteine) and MMP-9 (zeige MMP9 Proteine) were knocked out in gamma - sarcoglycan-deficient mice. The study found that up-regulation of MMP-14 (zeige MMP14 Proteine) is capable of cleaving beta-DG, and it may be involved in the pathogenesis of sarcoglycanopathy.
for MD research. The Sgcg(-/-) mice have a more severe phenotype than the mdx (zeige DMD Proteine) mice. Muscle function was assessed by plethysmography and echocardiography. Histologically the Sgcg(-/-) mice displayed increased fibrosis and variable fiber size.
This study supports a model where dystrophin (zeige DMD Proteine), but not the sarcoglycans, protects the cardiac myocyte against mechanical damage.
localization of gamma-SG does not require Tyr (zeige TYR Proteine)(6), but localization alone is insufficient for restoration of normal signal transduction patterns after mechanical perturbation
The limb, shoulder, and pelvic muscles of the gsg-/- mice exhibited progressive muscle hypertrophy and weakness with age, and the findings were similar to those seen in other mouse models for limb-girdle and Duchenne muscular dystrophy (zeige DMD Proteine).
In sarcoglycan (zeige SGCD Proteine) mutant mice, regionally increased cardiac NO was associated with hypersensitivity to carbachol and decreased sensitivity to adrenergic stimulation.
delta- and gamma-sarcoglycan prevent vascular spasm in coronary arteries and in vascular smooth muscle
sarcoglycan (zeige SGCD Proteine) and integrin alpha7beta1 have overlapping roles in mediating cytoskeletal-membrane-extracellular matrix interaction
Sarcoglycan gamma missense mutations affect sarcoglycan (zeige SGCD Proteine) complex assembly and/or localization to the cell surface and provide information on the molecular mechanisms underlying the effects of various sarcoglycan (zeige SGCD Proteine) mutations in muscular dystrophies.
This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C).
, 35 kDa dystrophin-associated glycoprotein
, 35kD dystrophin-associated glycoprotein
, gamma sarcoglycan
, sgcg gene for gamma-sarcoglycan
, sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)