Work

Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis

Year: 1992

Type: article

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.

Source: Annals of Neurology

DOI: 10.1002/ana.410310515

Authors: David H. Gutmann, Francis S. Collins

Institutions: Howard Hughes Medical Institute, University of Michigan, Michigan Medicine

Language: English

Topic: Neurofibromatosis and Schwannoma Cases

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2071435622

FWCI: 6.478

Cites: 35

Cited by: 54

Related to: 10