[HTML][HTML] Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy

YP Bao, LJ Cook, D O'Donovan, E Uyama… - Journal of Biological …, 2002 - ASBMB
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is characterized
pathologically by intranuclear inclusions in skeletal muscles and is caused by the expansion
of a 10-alanine stretch to 12–17 alanines in the intranuclear poly (A)-binding protein 2
(PABP2). Whereas PABP2 is a major component of the inclusions in OPMD, the pathogenic
mechanisms causing disease are unknown. Here we show that polyalanine expansions in
PABP2 cause increased numbers of inclusions and enhance death in COS-7 cells. We …