Review
doi: 10.1016/j.spen.2006.01.007.
The genetic and molecular pathogenesis of NF1 and NF2
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- PMID: 16818172
- DOI: 10.1016/j.spen.2006.01.007
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Review
The genetic and molecular pathogenesis of NF1 and NF2
Semin Pediatr Neurol.
2006 Mar.
Abstract
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.
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