Article
A porcine model of neurofibromatosis type 1 that mimics the human disease.
JCI insight - 21 Jun 2018
White Katherine A, Swier Vicki J, Cain Jacob T, Kohlmeyer Jordan L, Meyerholz David K, Tanas Munir R, Uthoff Johanna, Hammond Emily, Li Hua, Rohret Frank A, Goeken Adam, Chan Chun-Hung, Leidinger Mariah R, Umesalma Shaikamjad, Wallace Margaret R, Dodd Rebecca D, Panzer Karin, Tang Amy H, Darbro Benjamin W, Moutal Aubin, Cai Song, Li Wennan, Bellampalli Shreya S, Khanna Rajesh, Rogers Christopher S, Sieren Jessica C, Quelle Dawn E, Weimer Jill M
Abstract excerpt
Loss of the NF1 tumor suppressor gene causes the autosomal dominant condition, neurofibromatosis type 1 (NF1). Children and adults with NF1 suffer from pathologies including benign and malignant tumors to cognitive deficits, seizures, growth abnormalities, and peripheral neuropathies. NF1 encodes neurofibromin, a Ras-GTPase activating protein, and NF1 mutations result in hyperactivated Ras signaling in patients....
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