Dystroglycan and muscular dystrophies related to the dystrophin-glycoprotein complex.
Dystroglycan (DG) is an adhesion molecule composed of two subunits, alpha and beta, that are produced by the post-translational cleavage of a single precursor molecule. DG is a pivotal component of the dystrophin-glycoprotein complex (DGC), which connects the extracellular matrix to the cytoskeleton in skeletal muscle and many other tissues. Some muscular dystrophies are caused by mutations of DGC components, such as dystrophin, sarcoglycan or laminin-2, or also of DGC-associated molecules, such as caveolin-3. DG-null mice died during early embriogenesis and no neuromuscular diseases directly associated to genetic abnormalities of DG were identified so far. However, DG plays a crucial role for muscle integrity since its targeting at the sarcolemma is often perturbed in DGC-related neuromuscular disorders.
Sciandra
Francesca
F
Consiglio Nazionale delle Ricerche, Istituto di Chimica del Riconoscimento Molecolare c/o Istituto di Biochimica e Biochimica Clinica, Università Cattolica del Sacro Cuore, Rome, Italy.
Bozzi
Manuela
M
Bianchi
Marzia
M
Pavoni
Ernesto
E
Giardina
Bruno
B
Brancaccio
Andrea
A
D000818:Animals; D051244:Caveolin 3; D022461:Caveolins / Q000172:deficiency / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D003599:Cytoskeleton / Q000737:chemistry; D049030:Dystroglycans; D006801:Humans; D007797:Laminin / Q000172:deficiency / Q000235:genetics; D046911:Macromolecular Substances; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D051379:Mice; D018345:Mice, Knockout; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D009137:Muscular Dystrophy, Animal / Q000235:genetics / Q000378:metabolism; D011499:Protein Processing, Post-Translational; D012508:Sarcolemma / Q000737:chemistry
C495548:Cav3 protein, mouse; D051244:Caveolin 3; D022461:Caveolins; D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D007797:Laminin; D046911:Macromolecular Substances; D008562:Membrane Glycoproteins; C102645:laminin alpha 2; D049030:Dystroglycans