The genetic and molecular pathogenesis of NF1 and NF2.
Neurofibromatosis types 1 and 2 (NF1 and NF2) are autosomal dominant phakomatoses. The NF1 and NF2 genes encode for neurofibromin and merlin, respectively. These 2 functionally unrelated proteins both act as tumor suppressor genes, possibly through modulation of the RAS/RAC oncogenic pathways. Improved understanding of the mechanisms by which these tumor suppressors act may allow for medical therapies for neurofibromatosis and may offer insights for cancer therapeutics.
Yohay
Kaleb H
KH
Division of Child Neurology and Pediatrics, Johns Hopkins University, Baltimore, MD 21287, USA. kyohay@jhmi.edu
D000818:Animals; D016147:Genes, Tumor Suppressor / Q000502:physiology; D006801:Humans; D009456:Neurofibromatosis 1 / Q000235:genetics*; D016518:Neurofibromatosis 2 / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D025581:Neurofibromin 2 / Q000235:genetics*
D025542:Neurofibromin 1; D025581:Neurofibromin 2