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Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders
Joint Authors
Gipson, Tanjala T.
Johnston, Michael V.
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-04-30
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Gipson, Tanjala T.& Johnston, Michael V.. 2012. Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders. Neural Plasticity،Vol. 2012, no. 2012, pp.1-10.
https://search.emarefa.net/detail/BIM-1002423
Modern Language Association (MLA)
Gipson, Tanjala T.& Johnston, Michael V.. Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders. Neural Plasticity No. 2012 (2012), pp.1-10.
https://search.emarefa.net/detail/BIM-1002423
American Medical Association (AMA)
Gipson, Tanjala T.& Johnston, Michael V.. Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders. Neural Plasticity. 2012. Vol. 2012, no. 2012, pp.1-10.
https://search.emarefa.net/detail/BIM-1002423
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1002423