The genetic and molecular pathogenesis of NF1 and NF2.

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.

• Authors: Kaleb H Yohay
• Journal: Seminars in pediatric neurology (Semin Pediatr Neurol) Vol. 13 Issue 1 Pg. 21-6 (Mar 2006) ISSN: 1071-9091 [Print] United States
• PMID: 16818172 (Publication Type: Journal Article, Review)

Chemical References

• Neurofibromin 1
• Neurofibromin 2

Topics

• Animals
• Genes, Tumor Suppressor (physiology)
• Humans
• Neurofibromatosis 1 (genetics)
• Neurofibromatosis 2 (genetics)
• Neurofibromin 1 (genetics)
• Neurofibromin 2 (genetics)