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deletion of the delta-sarcoglycan gene produced disrupted flight muscles with shortened sarcomeres and disorganized M lines
delta-sarcoglycan plays an important role in early heart and muscle development.
Study identified 2 non-synonymous missense mutations: c.C652T, p.R218W in ACVRL1 (zeige ACVRL1 Proteine), c.C717G, p.D239E in SGCD in Chinese population with total anomalous pulmonary venous return.
Dilated cardiomyopathy mutations in delta-sarcoglycan can exert a dominant negative effect on dystrophin (zeige DMD Proteine)-glycoprotein complex function leading to myocardial mechanical instability that may underlie the pathogenesis of delta-sarcoglycan-associated DCM.
CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population
Genetic variation at the delta-sarcoglycan locus elevates heritable sympathetic nerve activity in human twin pairs
Finding questions the pathological relevance of sequence variant of the delta-sarcoglycan gene for causing familial autosomal-dominant dilated cardiomyopathy.
These data suggest that formation of the beta-delta-core may promote the export and deposition of sarcoglycan subcomplexes at the plasma membrane, and therefore identifies a mechanism for sarcoglycan transport.
The 5'-UTR G to C polymorphism on delta-sarcoglycan gene was associated with coronary spasm in Japanese patients with hypertrophic cardiomyopathy.
The limb-girdle muscular dystrophy patients with delta-sarcoglycan deficient LGMD2F do not enable an accurate prediction of the genotype.
Collectively, these results confirm and extend understanding of a functional role for the dystrophin (zeige DMD Proteine)-glycoprotein complex in the contractile properties of airway smooth muscle and demonstrate that this results in altered lung function in vivo.
Myocardial expression of p.S151A cDNA, similar to intact Sgcd cDNA, restores cardiac function, although not being able to prevent myocardial histopathology in Sgcd-null mice completely.
Despite SGC rescue, and contrary to previous observations obtained with WT/mdx chimeras low levels of ESC incorporation were insufficient to produce histological corrections in SGdelta-KO skeletal muscle or heart.
This study supports a model where dystrophin (zeige DMD Proteine), but not the sarcoglycans, protects the cardiac myocyte against mechanical damage.
dystrophic phenotype observed in delta-sarcoglycan-null (Sgcd(-/-)) mice and dystrophin (zeige DMD Proteine) mutant mdx (zeige DMD Proteine) mice is dramatically improved by skeletal muscle-specific (zeige EIF3K Proteine) overexpression of sarcoplasmic reticulum Ca(2+) ATPase 1 (SERCA1 (zeige ATP2A1 Proteine))
delta-SG isoforms may stabilize gamma-SG (zeige SGCG Proteine) and microSPN in transverse tubules and sarcoplasmic reticulum membranes and this possible complex may play a role in maintenance of stable level of resting cytosolic calcium concentration in skeletal muscle.
Abscence of sarcoglycan delta may be related to pathogenesis of muscular dystrophy.
delta- and gamma-sarcoglycan (zeige SGCG Proteine) prevent vascular spasm in coronary arteries and in vascular smooth muscle
a delta-sarcoglycan isoform is localized at the sarcoplasmic reticulum of mouse skeletal muscle
We propose that MDPCs may be the promising progenitor cells in skeletal muscle to treat delta-sarcoglycan complex mutant cardiomyopathy.
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. 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 for this gene.
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
, sarcoglycan delta
, sarcoglycan, delta (dystrophin-associated glycoprotein)
, 35 kDa dystrophin-associated glycoprotein
, dystrophin associated glycoprotein, delta sarcoglycan
, placental delta sarcoglycan
, delta sarcoglycan
, sarcoglycan, delta (35kD dystrophin-associated glycoprotein)