Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis

David H. Gutmann, Francis S. Collins

Research output: Contribution to journalReview articlepeer-review

39 Scopus citations

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.

Original languageEnglish
Pages (from-to)555-561
Number of pages7
JournalAnnals of neurology
Volume31
Issue number5
DOIs
StatePublished - May 1992

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