Literature DB >> 22560338

Targeted treatment trials for tuberous sclerosis and autism: no longer a dream.

Mustafa Sahin1.   

Abstract

Genetic disorders that present with a high incidence of autism spectrum disorders (ASD) offer tremendous potential both for elucidating the underlying neurobiology of ASD and identifying therapeutic drugs and/or drug targets. As a result, clinical trials for genetic disorders associated with ASD are no longer a hope for the future but rather an exciting reality whose time has come. Tuberous sclerosis complex (TSC) is one such genetic disorder that presents with ASD, epilepsy, and intellectual disability. Cell culture and mouse model experiments have identified the mTOR pathway as a therapeutic target in this disease. This review summarizes the advantages of using TSC as model of ASD and the recent advances in the translational and clinical treatment trials in TSC.
Copyright © 2012 Elsevier Ltd. All rights reserved.

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Year:  2012        PMID： 22560338      PMCID： PMC3715752          DOI： 10.1016/j.conb.2012.04.008

Source DB:  PubMed          Journal:  Curr Opin Neurobiol        ISSN： 0959-4388            Impact factor:   6.627


  57 in total

Review 1.  Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.

Authors:  David J Kwiatkowski; Brendan D Manning
Journal:  Hum Mol Genet       Date:  2005-10-15       Impact factor: 6.150

2.  Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex.

Authors:  Ling-Hui Zeng; Yannan Ouyang; Vered Gazit; John R Cirrito; Laura A Jansen; Kevin C Ess; Kelvin A Yamada; David F Wozniak; David M Holtzman; David H Gutmann; Michael Wong
Journal:  Neurobiol Dis       Date:  2007-07-21       Impact factor: 5.996

3.  Akt regulates growth by directly phosphorylating Tsc2.

Authors:  Christopher J Potter; Laura G Pedraza; Tian Xu
Journal:  Nat Cell Biol       Date:  2002-09       Impact factor: 28.824

4.  The autistic neuron: troubled translation?

Authors:  Raymond J Kelleher; Mark F Bear
Journal:  Cell       Date:  2008-10-31       Impact factor: 41.582

5.  Association between cardiac tumors and tuberous sclerosis in the fetus and neonate.

Authors:  Wayne Tworetzky; Doff B McElhinney; Rene Margossian; Anita J Moon-Grady; Denver Sallee; Elizabeth Goldmuntz; Mary E van der Velde; Norman H Silverman; Lindsay D Allan
Journal:  Am J Cardiol       Date:  2003-08-15       Impact factor: 2.778

6.  Impaired synaptic plasticity in a rat model of tuberous sclerosis.

Authors:  Christian von der Brelie; Robert Waltereit; Lian Zhang; Heinz Beck; Timo Kirschstein
Journal:  Eur J Neurosci       Date:  2006-02       Impact factor: 3.386

7.  Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function.

Authors:  Lynsey Meikle; Kristen Pollizzi; Anna Egnor; Ioannis Kramvis; Heidi Lane; Mustafa Sahin; David J Kwiatkowski
Journal:  J Neurosci       Date:  2008-05-21       Impact factor: 6.167

8.  Rheb and mTOR regulate neuronal polarity through Rap1B.

Authors:  Ying-Hua Li; Hendrikje Werner; Andreas W Püschel
Journal:  J Biol Chem       Date:  2008-10-08       Impact factor: 5.157

9.  The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis.

Authors:  G F L Hofbauer; A Marcollo-Pini; A Corsenca; A D Kistler; L E French; R P Wüthrich; A L Serra
Journal:  Br J Dermatol       Date:  2008-06-28       Impact factor: 9.302

Review 10.  The new neurobiology of autism: cortex, connectivity, and neuronal organization.

Authors:  Nancy J Minshew; Diane L Williams
Journal:  Arch Neurol       Date:  2007-07
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  35 in total

1.  Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits.

Authors:  Guomei Tang; Kathryn Gudsnuk; Sheng-Han Kuo; Marisa L Cotrina; Gorazd Rosoklija; Alexander Sosunov; Mark S Sonders; Ellen Kanter; Candace Castagna; Ai Yamamoto; Zhenyu Yue; Ottavio Arancio; Bradley S Peterson; Frances Champagne; Andrew J Dwork; James Goldman; David Sulzer
Journal:  Neuron       Date:  2014-08-21       Impact factor: 17.173

2.  Issues in Clinical Epileptology: A View from the Bench. A Festschrift in Honor of Philip A. Schwartzkroin, PhD.

Authors:  Carl E Stafstrom
Journal:  Epilepsy Curr       Date:  2013-11       Impact factor: 7.500

Review 3.  mTOR referees memory and disease through mRNA repression and competition.

Authors:  Kimberly F Raab-Graham; Farr Niere
Journal:  FEBS Lett       Date:  2017-05-27       Impact factor: 4.124

Review 4.  Should epileptiform discharges be treated?

Authors:  Iván Sánchez Fernández; Tobias Loddenkemper; Aristea S Galanopoulou; Solomon L Moshé
Journal:  Epilepsia       Date:  2015-08-21       Impact factor: 5.864

Review 5.  Disentangling the heterogeneity of autism spectrum disorder through genetic findings.

Authors:  Shafali S Jeste; Daniel H Geschwind
Journal:  Nat Rev Neurol       Date:  2014-01-28       Impact factor: 42.937

Review 6.  Neurobiology of autism gene products: towards pathogenesis and drug targets.

Authors:  Kristel T E Kleijer; Michael J Schmeisser; Dilja D Krueger; Tobias M Boeckers; Peter Scheiffele; Thomas Bourgeron; Nils Brose; J Peter H Burbach
Journal:  Psychopharmacology (Berl)       Date:  2014-01-14       Impact factor: 4.530

7.  GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism.

Authors:  J L Silverman; M C Pride; J E Hayes; K R Puhger; H M Butler-Struben; S Baker; J N Crawley
Journal:  Neuropsychopharmacology       Date:  2015-03-10       Impact factor: 7.853

8.  D-Cycloserine improves sociability in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders with altered Ras/Raf/ERK1/2 signaling.

Authors:  Jessica A Burket; Andrew D Benson; Amy H Tang; Stephen I Deutsch
Journal:  Brain Res Bull       Date:  2013-05-15       Impact factor: 4.077

Review 9.  Pushing the threshold: How NMDAR antagonists induce homeostasis through protein synthesis to remedy depression.

Authors:  Kimberly F Raab-Graham; Emily R Workman; Sanjeev Namjoshi; Farr Niere
Journal:  Brain Res       Date:  2016-04-26       Impact factor: 3.252

Review 10.  Translational control in synaptic plasticity and cognitive dysfunction.

Authors:  Shelly A Buffington; Wei Huang; Mauro Costa-Mattioli
Journal:  Annu Rev Neurosci       Date:  2014       Impact factor: 12.449
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