Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression.

@article{Moulding2000ClinicalMI,
  title={Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression.},
  author={H D Moulding and Robert L. Martuza and Samuel David Rabkin},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={2000},
  volume={20 15},
  pages={5696-702}
}
Mutations in the L1 neural cell adhesion molecule, a transmembrane glycoprotein, cause a spectrum of congenital neurological syndromes, ranging from hydrocephalus to mental retardation. Many of these mutations are single amino acid changes that are distributed throughout the various domains of the protein. Defective herpes simplex virus vectors were used to express L1 protein with the clinical missense mutations R184Q and D598N in the Ig2 and Ig6 extracellular domains, respectively, and S1194L… CONTINUE READING