Article
Disease-proportional proteasomal degradation of missense dystrophins.
Proceedings of the National Academy of Sciences of the United States of America - 6 Oct 2015
Talsness Dana M, Belanto Joseph J, Ervasti James M
Abstract excerpt
The 427-kDa protein dystrophin is expressed in striated muscle where it physically links the interior of muscle fibers to the extracellular matrix. A range of mutations in the DMD gene encoding dystrophin lead to a severe muscular dystrophy known as Duchenne (DMD) or a typically milder form known as Becker (BMD). Patients with nonsense mutations in dystrophin are specifically targeted by stop codon read-through...
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