Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA.

@article{Calado2000NuclearII,
  title={Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA.},
  author={Angelo Calado and Fernando M. S. Tom{\'e} and Bernard Brais and Guy Rouleau and Uwe Kuehn and Elmar Wahle and Maria Carmo-Fonseca},
  journal={Human molecular genetics},
  year={2000},
  volume={9 15},
  pages={2321-8}
}
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease characterized by progressive eyelid drooping, swallowing difficulties and proximal limb weakness. The autosomal dominant form of the disease is caused by short (GCG)(8-13) expansions in the PABP2 gene. This gene encodes the poly(A) binding protein 2 (PABP2), an abundant nuclear protein that binds with high affinity to nascent poly(A) tails, stimulating their extension and controlling their length. In this work we report that… CONTINUE READING
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