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Clinical severity of limb-girdle muscular dystrophy type 2Emay be predicted by SGCB gene mutation and sarcoglycan (show SGCD Proteins) protein expression.
Defective assembly of sarcoglycan (show SGCD Proteins) complex in patients with beta-sarcoglycan gene mutations
beta-sarcoglycan and SPATA18 (show SPATA18 Proteins) may have a role in limb-girdle muscular dystrophy type 2E
While the quantity of beta-sarcoglycan was nearly normal in the limb girdle muscular dystrophy (LGMD)2E carrier, the levels of dysferlin protein were reduced to 50% of controls in the carriers of LGMD2B.
These data suggest that formation of the beta-delta-core may promote the export and deposition of sarcoglycan (show SGCD Proteins) subcomplexes at the plasma membrane, and therefore identifies a mechanism for sarcoglycan (show SGCD Proteins) transport.
The limb-girdle muscular dystrophy patients with beta-sarcoglycan deficient LGMD2E do not enable an accurate prediction of the genotype.
beta-Sarcoglycan deficiency reduces atherosclerotic plaque formation in ApoE (show APOE Proteins)-knockout mouse model.
In Sgcb-null mice, severe morphological disruption was present from 4 weeks in both quadriceps and diaphragm, and included conspicuous deposition of extracellular matrix components.
Aging leads to changes in expression of beta-sarcoglycan in aged affected muscles (diaphragm and limb).
Sarcoglycan beta missense mutations affect sarcoglycan (show SGCD Proteins) complex assembly and/or localization to the cell surface and provide information on the molecular mechanisms underlying the effects of various sarcoglycan (show SGCD Proteins) mutations in muscular dystrophies.
Data demonstrate a novel function of the sarcoglycan (show SGCD Proteins) complex in whole body glucose homeostasis and skeletal muscle metabolism, suggesting that the impairment of the skeletal muscle metabolism influences the pathogenesis of muscular dystrophy.
subcellular localization of dScgbeta dramatically changes during mitosis through possible association with tubulin (show TUBB Proteins); these observations point to a complex role of sarcoglycans in non-muscle tissues.
This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.
43 kDa dystrophin-associated glycoprotein
, beta-sarcoglycan(43kD dystrophin-associated glycoprotein)
, limb girdle muscular dystrophy 2E (non-linked families)
, sarcoglycan, beta (43kD dystrophin-associated glycoprotein)
, sarcoglycan beta
, SarcoGlycaN family member (sgn-1)