Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans.

@article{Juvet2007MolecularPO,
  title={Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans.},
  author={Stephen C Juvet and Francis X McCormack and D. J. Kwiatkowski and Gregory P Downey},
  journal={American journal of respiratory cell and molecular biology},
  year={2007},
  volume={36 4},
  pages={398-408}
}
Lymphangioleiomyomatosis (LAM) is a rare progressive cystic lung disease affecting young women. The pivotal observation that LAM occurs both spontaneously and as part of the tuberous sclerosis complex (TSC) led to the hypothesis that these disorders share common genetic and pathogenetic mechanisms. In this review we describe the evolution of our understanding of the molecular and cellular basis of LAM and TSC, beginning with the discovery of the TSC1 and TSC2 genes and the demonstration of… CONTINUE READING