title: Mouse models of neurofibromatosis type I: bridging the GAP.
abstract: Neurofibromatosis type I (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene, leading to a variety of abnormalities in cell growth and differentiation, and to learning disabilities. The protein encoded by NF1, neurofibromin, has several biochemical functions and is expressed in a variety of different cell populations. Hence, determination of the molecular and cellular mechanisms that underlie the different NF1 symptoms is difficult. However, studies using mouse models of NF1 are beginning to unravel the mechanisms that underlie the various symptoms associated with the disease. This knowledge will aid the development of treatments for the different pathological processes associated with NF1.
authors.affiliation: Department of Neurobiology and Brain Research Institute, University of California, Los Angeles, Room 2554, 95 Young Drive South, 90095-1761, USA.
authors.forename: Rui M
authors.initials: RM
authors.lastname: Costa
authors.forename: Alcino J
authors.initials: AJ
authors.lastname: Silva
mesh_terms: D000818:Animals; D002454:Cell Differentiation; D002455:Cell Division; D004195:Disease Models, Animal; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics; D051379:Mice; D008954:Models, Biological; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology*