Molecular model of OPMD. Aymeric Chartier Pierre Klein Stéphanie Pierson Nicolas Barbezier Teresa Gidaro François Casas Steven Carberry Paul Dowling Laurie Maynadier Maëlle Bellec Martine Oloko Claude Jardel Bodo Moritz George Dickson Vincent Mouly Kay Ohlendieck Gillian Butler-Browne Capucine Trollet Martine Simonelig 10.1371/journal.pgen.1005092.g009 https://plos.figshare.com/articles/figure/_Molecular_model_of_OPMD_/1359258 <p>The first molecular defect in OPMD would be a general decrease in the cleavage/polyadenylation reaction resulting from affected PABPN1 function. This would not lead to a reduction of mRNA levels at steady-state for most mRNAs, but would lead to such a decrease for mRNAs actively deadenylated by Smg/CCR4-NOT, among which mRNAs involved in mitochondrial function. This would result in mitochondrial dysfunction and in turn affected muscle function. Additional mechanisms of mRNA regulation occurring downstream of the first defect in cleavage/polyadenylation are also expected to be involved. CPSF, Cleavage and polyadenylation specificity factor; CstF, Cleavage stimulation factor; PAP, poly(A) polymerase.</p> 2015-03-27 04:22:30 ccr mRNAs encoding mitochondrial proteins cleavage poly Drosophila OPMD model uncovers deadenylation regulator Smaug pabpn candidate genes encoding RNA binding proteins role Oculopharyngeal Muscular Dystrophy Pathogenesis Oculopharyngeal mitochondrial dysfunction