Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis

Ann Neurol. 1992 May;31(5):555-61. doi: 10.1002/ana.410310515.

Abstract

The gene for von Recklinghausen neurofibromatosis (NF1) was recently identified by positional cloning and found to code for a large, ubiquitously expressed protein. This protein has both structural and functional similarity to a family of proteins with guanosine triphosphatase-activating properties, involved in the regulation of the protooncogene ras. One of the postulated functions of the NF1 gene product may relate to its ability to regulate ras-mediated cell proliferation. Selective pharmacotherapy directed at downregulating ras may be of benefit to patients with NF1.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Forecasting
  • Genes
  • Genes, Tumor Suppressor
  • Humans
  • Molecular Biology
  • Mutation
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1
  • Proteins / physiology

Substances

  • Neurofibromin 1
  • Proteins