Molecular mechanisms of muscular dystrophies: old and new players

KE Davies, KJ Nowak - Nature reviews Molecular cell biology, 2006 - nature.com
Nature reviews Molecular cell biology, 2006nature.com
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.
Abstract
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.
nature.com