Molecular mechanisms of muscular dystrophies: old and new players.
The study of the muscle cell in the muscular dystrophies (MDs) has shown that mutant proteins result in perturbations of many cellular components. MDs have been associated with mutations in structural proteins, signalling molecules and enzymes as well as mutations that result in aberrant processing of mRNA or alterations in post-translational modifications of proteins. These findings have not only revealed important insights for cell biologists, but have also provided unexpected and exciting new approaches for therapy.
Davies
Kay E
KE
Department of Physiology, Anatomy and Genetics, MRC Functional Genetics Unit, South Parks Road, Oxford OX1 3QX, UK. kay.davies@human-anatomy.oxford.ac.uk
Nowak
Kristen J
KJ
D000818:Animals; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008954:Models, Biological; D018482:Muscle, Skeletal / Q000737:chemistry / Q000378:metabolism* / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D050505:Mutant Proteins / Q000235:genetics / Q000378:metabolism*; D012508:Sarcolemma / Q000378:metabolism
D003598:Cytoskeletal Proteins; D050505:Mutant Proteins