HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy.

@article{Fan2003HnRNPAA,
  title={HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy.},
  author={Xueping Fan and Christiane Messaed and Patrick A. Dion and Janet L Lagani{\`e}re and Bernard Brais and George Karpati and Guy Rouleau},
  journal={The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques},
  year={2003},
  volume={30 3},
  pages={244-51}
}
BACKGROUND Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by progressive ptosis, dysphagia and proximal limb weakness. The autosomal dominant form of this disease is caused by short expansions of a (GCG)6 repeat to (GCG) in the PABPN1 gene. The mutations lead to the expansion of a polyalanine stretch from 10 to 12-17 alanines in the N-terminus of PABPN1. The mutated PABPN1 (mPABPN1) induces the formation of intranuclear filamentous inclusions that sequester… CONTINUE READING