Plasticity and mTOR: Towards restoration of impaired synaptic plasticity in mTOR-related neurogenetic disorders

Neural Plasticity

Volumn 2012, Issue , 2012, Pages

  Gipson, Tanjala T ^a   Johnston, Michael V ^a,b  

^a KENNEDY KRIEGER INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

6 QUINOXALINECARBOXYLIC ACID PIPERIDIDE; ACAMPROSATE; ARBACLOFEN; BACLOFEN; FENOBAM; FRAGILE X MENTAL RETARDATION PROTEIN; INITIATION FACTOR 4E; MAMMALIAN TARGET OF RAPAMYCIN; MEVINOLIN; OCTAHYDRO 4 HYDROXY 4 [(3 METHYLPHENYL)ETHYNYL] 1H INDOLE 1 CARBOXYLIC ACID METHYL ESTER; PHOSPHATASE; RO 4917523; RO4917523; SIMVASTATIN; STX 107; STX107; TUBERIN; UNCLASSIFIED DRUG; MTOR PROTEIN, HUMAN; TARGET OF RAPAMYCIN KINASE;

ANXIETY; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BONE CYST; CAFE AU LAIT SPOT; CLINICAL FEATURE; CONGENITAL TUMOR; ENAMEL; FIBROMA; FRAGILE X SYNDROME; GENE MUTATION; GINGIVA FIBROMATOSIS; HAMARTOMA; HEMANGIOFIBROMA; HUMAN; HYPERACTIVITY; HYPOMELANOSIS; INTELLECTUAL IMPAIRMENT; KIDNEY CYST; LHERMITTE DUCLOS DISEASE; LYMPHANGIOMYOMA; METHYLATION; NERVE CELL PLASTICITY; NEUROBIOLOGY; NEUROFIBROMATOSIS; OPTIC NERVE GLIOMA; PERIVENTRICULAR HETEROTOPIA; PLASTICITY; RECTUM POLYP; RHABDOMYOMA; SKIN DEFECT; SPEECH; SUBEPENDYMAL GIANT CELL ASTROCYTOMA; TASK PERFORMANCE; TUMOR; ANIMAL; CLINICAL TRIAL (TOPIC); GENETICS; METABOLISM; MUTATION; NERVE CELL NETWORK; NEUROLOGIC DISEASE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; REVIEW; SIGNAL TRANSDUCTION; SYNAPSE;

ANIMALS; CLINICAL TRIALS AS TOPIC; HUMANS; MUTATION; NERVE NET; NERVOUS SYSTEM DISEASES; NEURONAL PLASTICITY; SIGNAL TRANSDUCTION; SYNAPSES; TOR SERINE-THREONINE KINASES;

EID: 84861049888     PISSN: 20905904     EISSN: 16875443     Source Type: Journal    
DOI: 10.1155/2012/486402     Document Type: Article

References (95)

1. Johnston M. V., Ishida A., Ishida W. N., Matsushita H. B., Nishimura A., Tsuji M., Plasticity and injury in the developing brain Brain and Development 2009 31 1 1 10
2. Haydar T. F., Bambrick L. L., Krueger B. K., Rakic P., Organotypic slice cultures for analysis of proliferation, cell death, and migration in the embryonic neocortex Brain Research Protocols 1999 4 3 425 437
3. Kernie S. G., Parent J. M., Forebrain neurogenesis after focal ischemic and traumatic brain injury Neurobiology of Disease 2010 37 2 267 274
4. Gomez M., Sampson J. R., Whittemore V. H., Tuberous Sclerosis Complex 1999 3rd Oxford, UK Oxford University Press
5. Jansen F. E., Vincken K. L., Algra A., Anbeek P., Braams O., Nellist M., Zonnenberg B. A., Jennekens-Schinkel A., van den Ouweland A., Halley D., van Huffelen A. C., van Nieuwenhuizen O., Cognitive impairment in tuberous sclerosis complex is a multifactorial condition Neurology 2008 70 12 916 923 (Pubitemid 351430755)
6. Rosner M., Hanneder M., Siegel N., Valli A., Hengstschlger M., The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners Mutation Research 2008 658 3 234 246
7. Gillberg I. C., Gillberg C., Ahlsen G., Autistic behaviour and attention deficits in tuberous sclerosis: a population-based study Developmental Medicine and Child Neurology 1994 36 1 50 56
8. Webb D. W., Fryer A. E., Osborne J. P., Morbidity associated with tuberous sclerosis: a population study Developmental Medicine and Child Neurology 1996 38 2 146 155 (Pubitemid 26058683)
9. Joinson C., O'Callaghan F. J., Osborne J. P., Martyn C., Harris T., Bolton P. F., Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex Psychological Medicine 2003 33 2 335 344 (Pubitemid 36221465)
10. Staley B. A., Montenegro M. A., Major P., Muzykewicz D. A., Halpern E. F., Kopp C. M. C., Newberry P., Thiele E. A., Self-injurious behavior and tuberous sclerosis complex: frequency and possible associations in a population of 257 patients Epilepsy and Behavior 2008 13 4 650 653
11. Hoeffer C. A., Klann E., mTOR signaling: at the crossroads of plasticity, memory and disease Trends in Neurosciences 2010 33 2 67 75
12. Von Der Brelie C., Waltereit R., Zhang L., Beck H., Kirschstein T., Impaired synaptic plasticity in a rat model of tuberous sclerosis European Journal of Neuroscience 2006 23 3 686 692
13. Ehninger D., Han S., Shilyansky C., Zhou Y., Li W., Kwiatkowski D. J., Ramesh V., Silva A. J., Reversal of learning deficits in a TSC 2+/- mouse model of tuberous sclerosis Nature Medicine 2008 14 8 843 848
14. Auerbach B. D., Osterweil E. K., Bear M. F., Mutations causing syndromic autism define an axis of synaptic pathophysiology Nature 2011 480 7375 63 68
15. Bateup H. S., Takasaki K. T., Saulnier J. L., Denefrio C. L., Sabatini B. L., Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function Journal of Neuroscience 2011 31 24 8862 8869
16. Napolioni V., Moavero R., Curatolo P., Recent advances in neurobiology of tuberous sclerosis complex Brain and Development 2009 31 2 104 113
17. Talos D. M., Kwiatkowski D. J., Cordero K., Black P. M., Jensen F. E., Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers Annals of Neurology 2008 63 4 454 465 (Pubitemid 351614711)
18. Meikle L., Talos D. M., Onda H., Pollizzi K., Rotenberg A., Sahin M., Jensen F. E., Kwiatkowski D. J., A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival Journal of Neuroscience 2007 27 21 5546 5558 (Pubitemid 350021088)
19. Wang Y., Greenwood J. S. F., Calcagnotto M. E., Kirsch H. E., Barbaro N. M., Baraban S. C., Neocortical hyperexcitability in a human case of tuberous sclerosis complex and mice lacking neuronal expression of Tsc1 Annals of Neurology 2007 61 2 139 152 (Pubitemid 46363841)
20. Zeng L. H., Ouyang Y., Gazit V., Cirrito J. R., Jansen L. A., Ess K. C., Yamada K. A., Wozniak D. F., Holtzman D. M., Gutmann D. H., Wong M., Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex Neurobiology of Disease 2007 28 2 184 196 (Pubitemid 47615457)
21. Jansen L. A., Uhlmann E. J., Crino P. B., Gutmann D. H., Wong M., Epileptogenesis and reduced inward rectifier potassium current in tuberous sclerosis complex-1-deficient astrocytes Epilepsia 2005 46 12 1871 1880 (Pubitemid 44921997)
22. Franz D. N., Leonard J., Tudor C., Chuck G., Care M., Sethuraman G., Dinopoulos A., Thomas G., Crone K. R., Rapamycin causes regression of astrocytomas in tuberous sclerosis complex Annals of Neurology 2006 59 3 490 498 (Pubitemid 43358069)
23. Franz D. N., Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis Expert Review of Anticancer Therapy 2011 11 8 1181 1192
24. Krueger D. A., Care M. M., Holland K., Agricola K., Tudor C., Mangeshkar P., Wilson K. A., Byars A., Sahmoud T., Franz D. N., Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis The New England Journal of Medicine 2010 363 19 1801 1811
25. Ehninger D., Silva A. J., Rapamycin for treating tuberous sclerosis and autism spectrum disorders Trends in Molecular Medicine 2011 17 2 78 87
26. Huson S., Kaufmann D., The neurofibromatoses: classification, clinical features and genetic counselling Neurofibromatoses (Monographs in Human Genetics) 2008 1st Basel, Switzerland S. Karger A.G. 1 20
27. Hyman S. L., Shores A., North K. N., The nature and frequency of cognitive deficits in children with neurofibromatosis type 1 Neurology 2005 65 7 1037 1044 (Pubitemid 41429628)
28. Cutting L. E., Cooper K. L., Koth C. W., Mostofsky S. H., Kates W. R., Denckla M. B., Kaufmann W. E., Megalencephaly in NF1: predominantly white matter contribution and mitigation by adhd Neurology 2002 59 9 1388 1394 (Pubitemid 35285992)
29. Pride N., Payne J. M., Webster R., Shores E. A., Rae C., North K. N., Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1 Journal of Child Neurology 2010 25 7 834 841
30. Denckla M. B., Hofman K., Mazzocco M. M. M., Melhem E., Reiss A. L., Bryan R. N., Harris E. L., Lee J., Cox C. S., Schuerholz L. J., Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower iqs in children with neurofibromatosis-1 American Journal of Medical Genetics A 1996 67 1 98 102
31. Chabernaud C., Sirinelli D., Barbier C., Cottier J. P., Sembely C., Giraudeau B., Déseille-Turlotte G., Lorette G., Barthez M. A., Castelnau P., Thalamo-striatal T2-weighted hyperintensities (unidentified bright objects) correlate with cognitive impairments in neurofibromatosis type 1 during childhood Developmental Neuropsychology 2009 34 6 736 748
32. Hyman S. L., Gill D. S., Shores E. A., Steinberg A., North K. N., T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning Journal of Neurology, Neurosurgery and Psychiatry 2007 78 10 1088 1091
33. Kraut M. A., Gerring J. P., Cooper K. L., Thompson R. E., Denckla M. B., Kaufman W. E., Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1 American Journal of Medical Genetics A 2004 129 2 113 119 (Pubitemid 39121275)
34. Dasgupta B., Yi Y., Chen D. Y., Weber J. D., Gutmann D. H., Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors Cancer Research 2005 65 7 2755 2760 (Pubitemid 40490077)
35. Banerjee S., Crouse N. R., Emnett R. J., Gianino S. M., Gutmann D. H., Neurofibromatosis-1 regulates mTOR-mediated astrocyte growth and glioma formation in a TSC/Rheb-independent manner Proceedings of the National Academy of Sciences of the United States of America 2011 108 38 15996 16001
36. Banerjee S., Gianino S. M., Gao F., Christians U., Gutmann D. H., Interpreting mammalian target of rapamycin and cell growth inhibition in a genetically engineered mouse model of NF1-deficient astrocytes Molecular Cancer Therapeutics 2011 10 2 279 291
37. Boyanapalli M., Lahoud O. B., Messiaen L., Kim B., Anderle de Sylor M. S., Duckett S. J., Somara S., Mikol D. D., Neurofibromin binds to caveolin-1 and regulates ras, fak, and akt Biochemical and Biophysical Research Communications 2006 340 4 1200 1208 (Pubitemid 43083405)
38. Sandsmark D. K., Zhang H., Hegedus B., Pelletier C. L., Weber J. D., Gutmann D. H., Nucleophosmin mediates mammalian target of rapamycin-dependent actin cytoskeleton dynamics and proliferation in neurofibromin-deficient astrocytes Cancer Research 2007 67 10 4790 4799 (Pubitemid 46910187)
39. Li W., Cui Y., Kushner S. A., Brown R. A. M., Jentsch J. D., Frankland P. W., Cannon T. D., Silva A. J., The hmg-coa reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1 Current Biology 2005 15 21 1961 1967 (Pubitemid 41566145)
40. Costa R. M., Federov N. B., Kogan J. H., Murphy G. G., Stern J., Ohno M., Kucherlapati R., Jacks T., Silva A. J., Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1 Nature 2002 415 6871 526 530 (Pubitemid 34130607)
41. Gau C. L., Kato-Stankiewicz J., Jiang C., Miyamoto S., Guo L., Tamanoi F., Farnesyltransferase inhibitors reverse altered growth and distribution of actin filaments in tsc-deficient cells via inhibition of both rapamycin-sensitive and -insensitive pathways Molecular Cancer Therapeutics 2005 4 6 918 926 (Pubitemid 40909074)
42. Guilding C., McNair K., Stone T. W., Morris B. J., Restored plasticity in a mouse model of neurofibromatosis type 1 via inhibition of hyperactive erk and creb European Journal of Neuroscience 2007 25 1 99 105 (Pubitemid 46096226)
43. Krab L. C., de Goede-Bolder A., Aarsen F. K., Pluijm S. M. F., Bouman M. J., van der Geest J. N., Lequin M., Catsman C. E., Arts W. F. M., Kushner S. A., Silva A. J., de Zeeuw C. I., Moll H. A., Elgersma Y., Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial Journal of the American Medical Association 2008 300 3 287 294 (Pubitemid 352008645)
44. Acosta M. T., Kardel P. G., Walsh K. S., Rosenbaum K. N., Gioia G. A., Packer R. J., Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study Pediatric Neurology 2011 45 4 241 245
45. Hagerman R. J., Amiri K., Cronister A., Fragile X checklist American Journal of Medical Genetics A 1991 38 2-3 283 287
46. Hagerman P. J., The fragile X prevalence paradox Journal of Medical Genetics 2008 45 8 498 499
47. Hagerman R. J., Hagerman P. J., Fragile X syndrome: a model of gene-brain-behavior relationships Molecular Genetics and Metabolism 2001 74 1-2 89 97 (Pubitemid 32955150)
48. Rogers S. J., Wehner E. A., Hagerman R., The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders Journal of Developmental and Behavioral Pediatrics 2001 22 6 409 417 (Pubitemid 34026944)
49. Verkerk A. J. M. H., Pieretti M., Sutcliffe J. S., Fu Y. H., Kuhl D. P. A., Pizzuti A., Reiner O., Richards S., Victoria M. F., Zhang F., Eussen B. E., van Ommen G. J. B., Blonden L. A. J., Riggins G. J., Chastain J. L., Kunst C. B., Galjaard H., Caskey C. T., Nelson D. L., Oostra B. A., Warren S. T., Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome Cell 1991 65 5 905 914 (Pubitemid 121001321)
50. Devys D., Lutz Y., Rouyer N., Bellocq J. P., Mandel J. L., The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation Nature Genetics 1993 4 4 335 340 (Pubitemid 23231479)
51. Penagarikano O., Mulle J. G., Warren S. T., The pathophysiology of fragile X syndrome Annual Review of Genomics and Human Genetics 2007 8 109 129
52. Bear M. F., Huber K. M., Warren S. T., The mGluR theory of fragile X mental retardation Trends in Neurosciences 2004 27 7 370 377 (Pubitemid 38829251)
53. Muddashetty R. S., Keli S., Gross C., Xu M., Bassell G. J., Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome Journal of Neuroscience 2007 27 20 5338 5348 (Pubitemid 46790157)
54. Muddashetty R. S., Nalavadi V. C., Gross C., Yao X., Xing L., Laur O., Warren S. T., Bassell G. J., Reversible inhibition of PSD-95 mRNA translation by miR-125a, FMRP phosphorylation, and mGluR signaling Molecular Cell 2011 42 5 673 688
55. Sharma A., Hoeffer C. A., Takayasu Y., Miyawaki T., McBride S. M., Klann E., Suzanne Zukin R., Dysregulation of mTOR signaling in fragile X syndrome Journal of Neuroscience 2010 30 2 694 702
56. McBride S. M. J., Choi C. H., Wang Y., Liebelt D., Braunstein E., Ferreiro D., Sehgal A., Siwicki K. K., Dockendorff T. C., Nguyen H. T., McDonald T. V., Jongens T. A., Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a drosophila model of fragile X syndrome Neuron 2005 45 5 753 764 (Pubitemid 40320709)
57. Dlen G., Osterweil E., Rao B. S. S., Smith G. B., Auerbach B. D., Chattarji S., Bear M. F., Correction of fragile X syndrome in mice Neuron 2007 56 6 955 962 (Pubitemid 350251119)
58. Thomas A. M., Bui N., Graham D., Perkins J. R., Yuva-Paylor L. A., Paylor R., Genetic reduction of group 1 metabotropic glutamate receptors alters select behaviors in a mouse model for fragile X syndrome Behavioural Brain Research 2011 223 2 310 321
59. Blundell J., Kaeser P. S., Sdhof T. C., Powell C. M., RIM1 and interacting proteins involved in presynaptic plasticity mediate prepulse inhibition and additional behaviors linked to schizophrenia Journal of Neuroscience 2010 30 15 5326 5333
60. Hays S. A., Huber K. M., Gibson J. R., Altered neocortical rhythmic activity states in Fmr1 KO mice are due to enhanced mGluR5 signaling and involve changes in excitatory circuitry Journal of Neuroscience 2011 31 40 14223 14234
61. Deng P. Y., Sojka D., Klyachko V. A., Abnormal presynaptic short-term plasticity and information processing in a mouse model of fragile X syndrome Journal of Neuroscience 2011 31 30 10971 10982
62. Olmos-Serrano J. L., Corbin J. G., Burns M. P., The GABAA receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome Developmental Neuroscience 2011 33 5 395 403
63. Budimirovic D. B., Bukelis I., Cox C., Gray R. M., Tierney E., Kaufmann W. E., Autism spectrum disorder in fragile X syndrome: differential contribution of adaptive socialization and social withdrawal American Journal of Medical Genetics A 2006 140 17 1814 1826 (Pubitemid 44330645)
64. Budimirovic D. B., Kaufmann W. E., What can we learn about autism from studying fragile X syndrome? Developmental Neuroscience 2011 33 5 379 394
65. Kaufmann W. E., Cortell R., Kau A. S. M., Bukelis I., Tierney E., Gray R. M., Cox C., Capone G. T., Stanard P., Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors American Journal of Medical Genetics A 2004 129 3 225 234 (Pubitemid 39166187)
66. Meguid N. A., Fahim C., Sami R., Nashaat N. H., Yoon U., Anwar M., El-Dessouky H. M., Shahine E. A., Ibrahim A. S., Mancini-Marie A., Evans A. C., Cognition and lobar morphology in full mutation boys with fragile X syndrome Brain and Cognition 2012 78 1 74 84
67. Jacquemont S., Curie A., des Portes V., Torrioli M. G., Berry-Kravis E., Hagerman R. J., Ramos F. J., Cornish K., He Y., Paulding C., Neri G., Chen F., Hadjikhani N., Martinet D., Meyer J., Beckmann J. S., Delange K., Brun A., Bussy G., Gasparini F., Hilse T., Floesser A., Branson J., Bilbe G., Johns D., Gomez-Mancilla B., Epigenetic modification of the fmr1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056 Science Translational Medicine 2011 3 64
68. Berry-Kravis E., Hessl D., Coffey S., Hervey C., Schneider A., Yuhas J., Hutchison J., Snape M., Tranfaglia M., Nguyen D. V., Hagerman R., A pilot open label, single dose trial of fenobam in adults with fragile X syndrome Journal of Medical Genetics 2009 46 4 266 271
69. Erickson C. A., Mullett J. E., McDougle C. J., Brief report: acamprosate in fragile X syndrome Journal of Autism and Developmental Disorders 2010 40 11 1412 1416
70. Berry-Kravis E., Sumis A., Hervey C., Nelson M., Porges S. W., Weng N., Weiler I. J., Greenough W. T., Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome Journal of Developmental and Behavioral Pediatrics 2008 29 4 293 302
71. Arai A., Kessler M., Xiao P., Ambros-Ingerson J., Rogers G., Lynch G., A centrally active drug that modulates AMPA receptor gated currents Brain Research 1994 638 1-2 343 346 (Pubitemid 24063324)
72. Arai A., Kessler M., Rogers G., Lynch G., Effects of a memory-enhancing drug on dl- -amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor currents and synaptic transmission in hippocampus Journal of Pharmacology and Experimental Therapeutics 1996 278 2 627 638
73. Berry-Kravis E., Krause S. E., Block S. S., Guter S., Wuu J., Leurgans S., Decle P., Potanos K., Cook E., Salt J., Maino D., Weinberg D., Lara R., Jardini T., Cogswell J., Johnson S. A., Hagerman R., Effect of CX516, an ampa-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial Journal of Child and Adolescent Psychopharmacology 2006 16 5 525 540 (Pubitemid 44737208)
74. Imbesi M., Uz T., Manev R., Sharma R. P., Manev H., Minocycline increases phosphorylation and membrane insertion of neuronal glur1 receptors Neuroscience Letters 2008 447 2-3 134 137
75. Bilousova T. V., Dansie L., Ngo M., Aye J., Charles J. R., Ethell D. W., Ethell I. M., Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model Journal of Medical Genetics 2009 46 2 94 102
76. Siller S. S., Broadie K., Neural circuit architecture defects in a Drosophila model of fragile X syndrome are alleviated by minocycline treatment and genetic removal of matrix metalloproteinase DMM Disease Models and Mechanisms 2011 4 5 673 685
77. Paribello C., Tao L., Folino A., Berry-Kravis E., Tranfaglia M., Ethell I. M., Ethell D. W., Open-label add-on treatment trial of minocycline in fragile X syndrome BMC Neurology 2010 10, article 91
78. Kesler S. R., Lightbody A. A., Reiss A. L., Cholinergic dysfunction in fragile X syndrome and potential intervention: a preliminary 1h mrs study American Journal of Medical Genetics A 2009 149 3 403 407
79. Erickson C. A., Weng N., Weiler I. J., Greenough W. T., Stigler K. A., Wink L. K., McDougle C. J., Open-label riluzole in fragile X syndrome Brain Research 2011 1380 264 270
80. Hall S. S., Lightbody A. A., McCarthy B. E., Parker K. J., Reiss A. L., Effects of intranasal oxytocin on social anxiety in males with fragile X syndrome Psychoneuroendocrinology 2012 37 4 509 518
81. Erickson C. A., Stigler K. A., Posey D. J., McDougle C. J., Aripiprazole in autism spectrum disorders and fragile X syndrome Neurotherapeutics 2010 7 3 258 263
82. Pacey L. K. K., Heximer S. P., Hampson D. R., Increased gabab receptor-mediated signaling reduces the susceptibility of fragile X knockout mice to audiogenic seizures Molecular Pharmacology 2009 76 1 18 24
83. Conti S., Condo M., Posar A., Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy Journal of Child Neurology 2012 27 3 392 397
84. Stein M. T., Elias E. R., Saenz M., Pickler L., Reynolds A., Autistic spectrum disorder in a 9-year-old girl with macrocephaly Journal of Developmental and Behavioral Pediatrics 2010 31 7 632 634
85. Varga E. A., Pastore M., Prior T., Herman G. E., McBride K. L., The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly Genetics in Medicine 2009 11 2 111 117
86. Buxbaum J. D., Cai G., Chaste P., Nygren G., Goldsmith J., Reichert J., Anckarster H., Rastam M., Smith C. J., Silverman J. M., Hollander E., Leboyer M., Gillberg C., Verloes A., Betancur C., Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly American Journal of Medical Genetics B 2007 144 4 484 491 (Pubitemid 46983159)
87. Perriard J., Saurat J. H., Harms M., An overlap of Cowden's disease and bannayan-riley-ruvalcaba syndrome in the same family Journal of the American Academy of Dermatology 2000 42 2 348 350 (Pubitemid 30463687)
88. Rodrguez-Escudero I., Oliver M. D., Andrés-Pons A., Molina M., Cid V. J., Pulido R., A comprehensive functional analysis of PTEN mutations: Implications in tumor- and autism-related syndromes Human Molecular Genetics 2011 20 21 4132 4142
89. Fraser M. M., Bayazitov I. T., Zakharenko S. S., Baker S. J., Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities Neuroscience 2008 151 2 476 488
90. Kwon C. H., Luikart B. W., Powell C. M., Zhou J., Matheny S. A., Zhang W., Li Y., Baker S. J., Parada L. F., Pten regulates neuronal arborization and social interaction in mice Neuron 2006 50 3 377 388
91. Klann E., Dever T. E., Biochemical mechanisms for translational regulation in synaptic plasticity Nature Reviews Neuroscience 2004 5 12 931 942 (Pubitemid 39593356)
92. Richter J. D., Sonenberg N., Regulation of cap-dependent translation by eIF4E inhibitory proteins Nature 2005 433 7025 477 480 (Pubitemid 40204297)
93. Schellenberg G. D., Dawson G., Sung Y. J., Estes A., Munson J., Rosenthal E., Rothstein J., Flodman P., Smith M., Coon H., Leong L., Yu C. E., Stodgell C., Rodier P. M., Spence M. A., Minshew N., McMahon W. M., Wijsman E. M., Evidence for multiple loci from a genome scan of autism kindreds Molecular Psychiatry 2006 11 11 1049 1060 (Pubitemid 44631647)
94. Yonan A. L., Alarcn M., Cheng R., Magnusson P. K. E., Spence S. J., Palmer A. A., Grunn A., Juo S. H. H., Terwilliger J. D., Liu J., Cantor R. M., Geschwind D. H., Gilliam T. C., A genomewide screen of 345 families for autism-susceptibility loci American Journal of Human Genetics 2003 73 4 886 897 (Pubitemid 37271891)
95. Neves-Pereira M., Mller B., Massie D., Williams J. H. G., O'Brien P. C. M., Hughes A., Shen S. B., Clair D. S., Miedzybrodzka Z., Deregulation of eIF4E: a novel mechanism for autism Journal of Medical Genetics 2009 46 11 759 765