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©The Author(s) 2023.
World J Exp Med. Sep 20, 2023; 13(4): 59-74
Published online Sep 20, 2023. doi: 10.5493/wjem.v13.i4.59
Published online Sep 20, 2023. doi: 10.5493/wjem.v13.i4.59
Figure 5 Mechanism of neurofibromatosis-1.
If the neurofibromatosis-1 gene on chromosome 17 is either mutated or deleted, either no protein product is formed, or a mutated protein is made. This mutation or deletion then results in the inhibition of the conversion of Ras-GTP to Ras-GDP, ultimately resulting in the increased signaling of Ras-GTP and leading to cell growth and proliferation, producing the neurofibromatosis phenotype. GTP: Guanosine triphosphate; GDP: Guanosine 5'-diphosphate; NF-1: Neurofibromatosis-1.
- Citation: Kioutchoukova IP, Foster DT, Thakkar RN, Foreman MA, Burgess BJ, Toms RM, Molina Valero EE, Lucke-Wold B. Neurologic orphan diseases: Emerging innovations and role for genetic treatments. World J Exp Med 2023; 13(4): 59-74
- URL: https://www.wjgnet.com/2220-315X/full/v13/i4/59.htm
- DOI: https://dx.doi.org/10.5493/wjem.v13.i4.59