Targeted Proteolysis of Plectin Isoform 1a Accounts for Hemidesmosome Dysfunction in Mice Mimicking the Dominant Skin Blistering Disease EBS-Ogna

@inproceedings{Walko2011TargetedPO,
  title={Targeted Proteolysis of Plectin Isoform 1a Accounts for Hemidesmosome Dysfunction in Mice Mimicking the Dominant Skin Blistering Disease EBS-Ogna},
  author={Gernot Walko and Nevena Vukasinovic and Karin Gross and Irmgard Fischer and Sabrina Sibitz and Peter F. Fuchs and Siegfried Reipert and Ute Jungwirth and Walter Berger and Ulrich Salzer and Oliviero Carugo and Maria J. Casta{\~n}{\'o}n and Gerhard Wiche},
  booktitle={PLoS genetics},
  year={2011}
}
Autosomal recessive mutations in the cytolinker protein plectin account for the multisystem disorders epidermolysis bullosa simplex (EBS) associated with muscular dystrophy (EBS-MD), pyloric atresia (EBS-PA), and congenital myasthenia (EBS-CMS). In contrast, a dominant missense mutation leads to the disease EBS-Ogna, manifesting exclusively as skin fragility. We have exploited this trait to study the molecular basis of hemidesmosome failure in EBS-Ogna and to reveal the contribution of plectin… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 19 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 82 references

migration in stratified epithelia and neurologic degeneration

  • RW Groves, L Liu, PJ Dopping-Hepenstal, HS Markus, PA Lovell
  • 2010

Similar Papers

Loading similar papers…