Plasticity and mTOR: towards restoration of impaired synaptic plasticity in mTOR-related neurogenetic disorders.
Plasticity and mTOR: towards restoration of impaired synaptic plasticity in mTOR-related neurogenetic disorders.
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DOI：
10.1155/2012/486402
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发表时间：
2012
影响因子：
3.1
通讯作者：
Johnston MV
中科院分区：
文献类型：
--
作者：
Gipson TT;Johnston MV
目标。综述与突触可塑性和mTOR信号异常相关的神经遗传疾病结节性硬化症（TSC）、神经纤维瘤病-1 （NF1）和脆性X综合征（FXS）、磷酸酶和张力蛋白同源错构瘤综合征（PTHS）的临床特征、基因突变、与mTOR（哺乳动物雷帕霉素靶点）失调相关的神经生物学以及临床试验的最新文献。方法。使用特定的搜索策略搜索Pubmed和Clinicaltrials.gov。结果/结论。虽然传统上被认为是不可逆的疾病，但在人类和临床前模型中取得了重大的科学进展，以了解如何减少或逆转这些神经遗传疾病的病理特征。本文揭示了这些条件之间的显著相似性。它们不仅具有突触可塑性受损和mTOR失调的共同特征，而且具有共同的临床特征——自闭症、智力残疾、皮肤病变和肿瘤。尽管在发现某些疾病的有效治疗方法方面的科学进步已经超过了其他疾病，但在了解连接整个群体的信号通路方面的进展表明，鲜为人知的疾病也将成为可治疗的。
Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1) and fragile X syndrome (FXS), and phosphatase and tensin homolog hamartoma syndromes (PTHS), which are neurogenetic disorders associated with abnormalities in synaptic plasticity and mTOR signaling. Methods. Pubmed and Clinicaltrials.gov were searched using specific search strategies. Results/Conclusions. Although traditionally thought of as irreversible disorders, significant scientific progress has been made in both humans and preclinical models to understand how pathologic features of these neurogenetic disorders can be reduced or reversed. This paper revealed significant similarities among the conditions. Not only do they share features of impaired synaptic plasticity and dysregulation of mTOR, but they also share clinical features—autism, intellectual disability, cutaneous lesions, and tumors. Although scientific advances towards discovery of effective treatment in some disorders have outpaced others, progress in understanding the signaling pathways that connect the entire group indicates that the lesser known disorders will become treatable as well.
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影响因子：
30.8
作者：
DEVYS, D;LUTZ, Y;MANDEL, JL
通讯作者：
MANDEL, JL
DOI：
10.1073/pnas.1019012108
发表时间：
2011-09-20
影响因子：
11.1
作者：
Banerjee, Sutapa;Crouse, Nikkilina R.;Gutmann, David H.
通讯作者：
Gutmann, David H.
DOI：
10.1016/j.bbrc.2005.12.129
发表时间：
2006-02-24
影响因子：
3.1
作者：
Boyanapalli, M;Lahoud, OB;Mikol, DD
通讯作者：
Mikol, DD
DOI：
10.1523/jneurosci.1617-11.2011
发表时间：
2011-06-15
期刊：
The Journal of neuroscience : the official journal of the Society for Neuroscience
影响因子：
--
作者：
Bateup HS;Takasaki KT;Saulnier JL;Denefrio CL;Sabatini BL
通讯作者：
Sabatini BL
DOI：
10.1089/cap.2006.16.525
发表时间：
2006-10-01
影响因子：
1.9
作者：
Berry-Kravis, Elizabeth;Krause, Sue Ellen;Hagerman, Randi
通讯作者：
Hagerman, Randi