Article
Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology.
Human molecular genetics - 1 Sept 2017
Vest Katherine E, Phillips Brittany L, Banerjee Ayan, Apponi Luciano H, Dammer Eric B, Xu Weiting, Zheng Dinghai, Yu Julia, Tian Bin, Pavlath Grace K, Corbett Anita H
Abstract excerpt
Oculopharyngeal muscular dystrophy (OPMD) is a late onset disease caused by polyalanine expansion in the poly(A) binding protein nuclear 1 (PABPN1). Several mouse models have been generated to study OPMD; however, most of these models have employed transgenic overexpression of alanine-expanded PABPN1. These models do not recapitulate the OPMD patient genotype and PABPN1 overexpression could confound molecular...
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