Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset progressive muscle disorder caused by a poly-alanine expansion mutation in the Poly(A) Binding Protein Nuclear 1 (PABPN1). The molecular mechanisms that regulate disease onset and progression are largely unknown. In order to identify molecular pathways that are consistently associated with OPMD, we… (More)
DOI: 10.1186/2044-5040-1-15

Topics

9 Figures and Tables

Cite this paper

@inproceedings{Anvar2010DeregulationOT, title={Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients}, author={Seyed Yahya Anvar and Peter A C 't Hoen and Andrea Venema and Barbara M van der Sluijs and Baziel G M van Engelen and Marc M. J. Snoeck and John Vissing and Capucine Trollet and George Dickson and Aymeric Chartier and Martine Simonelig and Gert-Jan van Ommen and Silv{\'e}re M. van der Maarel and Vered Raz}, booktitle={Skeletal Muscle}, year={2010} }