Insights into the pathogenesis of neurofibromatosis 1 vasculopathy

Authors
Hamilton, SJ Friedman, JM
Citation
Sj. Hamilton et Jm. Friedman, Insights into the pathogenesis of neurofibromatosis 1 vasculopathy, CLIN GENET, 58(5), 2000, pp. 341-344
Citations number
41
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
00099163 → ACNP
Volume
58
Issue
5
Year of publication
2000
Pages
341 - 344
Database
ISI
SICI code
0009-9163(200011)58:5<341:IITPON>2.0.ZU;2-3
Abstract
Intrinsic lesions of arterial walls are an important manifestation of neuro fibromatosis 1 (NF1). Neurofibromin is expressed in blood vessel endothelia l and smooth muscle cells, and NF1 vasculopathy may result from an alterati on of neurofibromin function in these cells. Elucidation of the role of neu rofibromin in the maintenance and repair of blood vessels may lead to novel approaches to the treatment of NF1 vasculopathy and vascular disease in ge neral.