Abstract
The dystrophin-glycoprotein complex (DGC) is a multisubunit complex that connects the cytoskeleton of a muscle fiber to its surrounding extracellular matrix. Mutations in the DGC disrupt the complex and lead to muscular dystrophy. There are a few naturally occurring animal models of DGC-associated muscular dystrophy (e.g. the dystrophin-deficient mdx mouse, dystrophic golden retriever dog, HFMD cat and the delta-sarcoglycan-deficient BIO 14.6 cardiomyopathic hamster) that share common genetic protein abnormalities similar to those of the human disease. However, the naturally occurring animal models only partially resemble human disease. In addition, no naturally occurring mouse models associated with loss of other DGC components are available. This has encouraged the generation of genetically engineered mouse models for DGC-linked muscular dystrophy. Not only have analyses of these mice led to a significant improvement in our understanding of the pathogenetic mechanisms for the development of muscular dystrophy, but they will also be immensely valuable tools for the development of novel therapeutic approaches for these incapacitating diseases.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Calcium-Binding Proteins
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Carrier Proteins / genetics
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Carrier Proteins / metabolism
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Caveolin 3
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Caveolins / genetics
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Caveolins / metabolism
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Cytoskeletal Proteins / deficiency
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Cytoskeletal Proteins / genetics
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Cytoskeletal Proteins / metabolism
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Disease Models, Animal*
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Dystroglycans
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Dystrophin / genetics*
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Dystrophin-Associated Proteins*
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Glycoproteins / genetics*
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Humans
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Integrins / deficiency
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Integrins / genetics
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Integrins / metabolism
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Membrane Glycoproteins / deficiency
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Membrane Glycoproteins / genetics
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Membrane Glycoproteins / metabolism
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Membrane Proteins / deficiency
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Membrane Proteins / genetics
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Membrane Proteins / metabolism
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Mice
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Mice, Inbred mdx
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Mice, Transgenic
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Muscle Proteins / genetics
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Muscle Proteins / metabolism
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Muscular Dystrophies / genetics*
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Neoplasm Proteins / deficiency
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Neoplasm Proteins / genetics
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Neoplasm Proteins / metabolism
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Neuropeptides / genetics
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Neuropeptides / metabolism
Substances
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Calcium-Binding Proteins
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Carrier Proteins
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Cav3 protein, mouse
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Caveolin 3
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Caveolins
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Cytoskeletal Proteins
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DAG1 protein, human
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Dystrophin
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Dystrophin-Associated Proteins
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Glycoproteins
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Integrins
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Membrane Glycoproteins
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Membrane Proteins
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Muscle Proteins
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Neoplasm Proteins
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Neuropeptides
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SSPN protein, human
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Sspn protein, mouse
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dystrobrevin
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syntrophin alpha1
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Dystroglycans