Modeling OPMD in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein

ABSTRACT: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disease caused by an alanine tract expansion mutation in Poly(A)-binding protein nuclear 1 (expPABPN1). To model OPMD in a myogenic and physiological context, we generated mouse myoblast cell clones stably expressing either human wild type (WT) or expPABPN1 at low levels. The transgene expression is induced upon myotube differentiation and results in formation of insoluble nuclear PABPN1 aggregates that are similar to the in vivo aggregates. Quantitative analysis of PABPN1 protein in myotube cultures revealed that expPABPN1 accumulation and aggregation is greater than that of the WT protein. In a comparative study we found that aggregation of expPABPN1 is more affected by inhibition of proteasome activity, as compared with

ORGANISM(S): Mus musculus

SUBMITTER: Seyed Yahya Anvar 

PROVIDER: E-GEOD-29909 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress