Article
A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1.
The EMBO journal - 17 May 2006
Chartier Aymeric, Benoit Béatrice, Simonelig Martine
Abstract excerpt
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset syndrome characterized by progressive degeneration of particular muscles. OPMD is caused by short GCG repeat expansions within the gene encoding the nuclear poly(A)-binding protein 1 (PABPN1) that extend an N-terminal polyalanine tract in the protein. Mutant PABPN1 aggregates as nuclear inclusions in OMPD patient muscles. We have created a Drosophila...
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