Hsueh Yi-Ping
Institute of Molecular Biology, Academia Sinica, 128, Sce. 2, Academia Rd, Taipei, 115, Taiwan, Republic of China.
J Biomed Sci. 2007 Jul;14(4):461-6. doi: 10.1007/s11373-007-9158-2. Epub 2007 Mar 17.
Neurofibromin, encoded by the Neurofibromatosis type I (NF1) gene, has been shown to regulate the Ras and cAMP signaling pathways. The signaling functions of neurofibromin may account for tumor formation in patients with NF1, as well as influencing neuronal function. Learning defects have been documented in NF1 mutant mice, and in NF1 patients, learning disabilities are common. In this review, the recent studies related to the role of neurofibromin in neuronal morphogenesis will be discussed, which may partly explain why the patients with NF1 have learning defects.
由1型神经纤维瘤病(NF1)基因编码的神经纤维瘤蛋白已被证明可调节Ras和cAMP信号通路。神经纤维瘤蛋白的信号功能可能是NF1患者肿瘤形成的原因,同时也影响神经元功能。在NF1突变小鼠中已记录到学习缺陷,并且在NF1患者中,学习障碍很常见。在这篇综述中,将讨论与神经纤维瘤蛋白在神经元形态发生中的作用相关的最新研究,这可能部分解释了为什么NF1患者存在学习缺陷。