Neurofibromatosis type 1 (NF1) is among the most common inherited human diseases. The NF1 protein is a Ras-GTPase activating protein, positioning NF1 in important intracellular signaling pathways. Patients with mutations in the NF1 gene can develop benign peripheral nerve tumors (neurofibromas), learning disabilities, and/or benign optic nerve gliomas, in addition to abnormalities unassociated with the nervous system. The NF1 gene is believed to act as a tumor suppressor. How NF1 mutations relate to benign features of NF1 is the subject of active investigation. Studies using transgenic mice with NF1 mutations and cells derived from these mice have yielded exciting new data, implicating multiple cell types mutant at NF1 and possibly factors in the environment in the pathogenesis of benign neurofibromas. NEUROSCIENTIST 3:412-420, 1997
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