Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.

@article{AbuBaker2003InvolvementOT,
  title={Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.},
  author={Aida Abu-Baker and Christiane Messaed and Janet L Lagani{\`e}re and Claudia Gaspar and Bernard Brais and Guy Rouleau},
  journal={Human molecular genetics},
  year={2003},
  volume={12 20},
  pages={2609-23}
}
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy that results from small expansions of a polyalanine tract in the PABPN1 gene. Intranuclear inclusions are the pathological hallmark of OPMD. The mechanism by which protein aggregation in OPMD might relate to a toxic gain-of-function has so far remained elusive. Whether protein aggregates themselves are pathogenic or are the consequence of an unidentified underlying molecular mechanism is still… CONTINUE READING
46 Citations
61 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 46 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 61 references

Similar Papers

Loading similar papers…