Notch signalling pathway and human diseases.

  title={Notch signalling pathway and human diseases.},
  author={Anne Joutel and Elizabeth Tournier-Lasserve},
  journal={Seminars in cell & developmental biology},
  volume={9 6},
Several homologs of the Drosophila Notch receptor and its ligands, Delta/Serrate, have been cloned in man. Three human disorders including a neoplasia (a T-cell acute lymphoblastic leukemia/lymphoma), a late onset neurological disease (CADASIL) and a developmental disorder (the Alagille syndrome) are associated with mutations in, respectively, the Notch1, Notch3 and Jagged1 genes, pointing out the broad spectrum of Notch activity in humans. We report herein on what has been learned on the role… CONTINUE READING


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