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Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling.

Wen Y, Alshikho MJ, Herbert MR.

PLoS One. 2016 Apr 7;11(4):e0153329. doi: 10.1371/journal.pone.0153329. eCollection 2016.


Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.

Matsushita Y, Sakai Y, Shimmura M, Shigeto H, Nishio M, Akamine S, Sanefuji M, Ishizaki Y, Torisu H, Nakabeppu Y, Suzuki A, Takada H, Hara T.

Sci Rep. 2016 Mar 10;6:22991. doi: 10.1038/srep22991.


Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders.

Li J, Ma Z, Shi M, Malty RH, Aoki H, Minic Z, Phanse S, Jin K, Wall DP, Zhang Z, Urban AE, Hallmayer J, Babu M, Snyder M.

Cell Syst. 2015 Nov 25;1(5):361-374.


Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders.

Werling DM, Parikshak NN, Geschwind DH.

Nat Commun. 2016 Feb 19;7:10717. doi: 10.1038/ncomms10717.


The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers.

Estruch SB, Graham SA, Deriziotis P, Fisher SE.

Sci Rep. 2016 Feb 12;6:20911. doi: 10.1038/srep20911.


The therapeutic potential of insulin-like growth factor-1 in central nervous system disorders.

Costales J, Kolevzon A.

Neurosci Biobehav Rev. 2016 Apr;63:207-22. doi: 10.1016/j.neubiorev.2016.01.001. Epub 2016 Jan 15. Review.


Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model of Autism Spectrum Disorder.

Daimon CM, Jasien JM, Wood WH 3rd, Zhang Y, Becker KG, Silverman JL, Crawley JN, Martin B, Maudsley S.

Front Physiol. 2015 Nov 24;6:324. doi: 10.3389/fphys.2015.00324. eCollection 2015.


Karyopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2.

Baker SA, Lombardi LM, Zoghbi HY.

J Biol Chem. 2015 Sep 11;290(37):22485-93. doi: 10.1074/jbc.M115.658104. Epub 2015 Aug 5.


Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders.

Parikshak NN, Gandal MJ, Geschwind DH.

Nat Rev Genet. 2015 Aug;16(8):441-58. doi: 10.1038/nrg3934. Epub 2015 Jul 7. Review.


Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.

Nebel RA, Kirschen J, Cai J, Woo YJ, Cherian K, Abrahams BS.

PLoS One. 2015 Jun 15;10(6):e0129270. doi: 10.1371/journal.pone.0129270. eCollection 2015.


Fragile X Proteins FMRP and FXR2P Control Synaptic GluA1 Expression and Neuronal Maturation via Distinct Mechanisms.

Guo W, Polich ED, Su J, Gao Y, Christopher DM, Allan AM, Wang M, Wang F, Wang G, Zhao X.

Cell Rep. 2015 Jun 16;11(10):1651-66. doi: 10.1016/j.celrep.2015.05.013. Epub 2015 Jun 4.


Actinin-4 Governs Dendritic Spine Dynamics and Promotes Their Remodeling by Metabotropic Glutamate Receptors.

Kalinowska M, Chávez AE, Lutzu S, Castillo PE, Bukauskas FF, Francesconi A.

J Biol Chem. 2015 Jun 26;290(26):15909-20. doi: 10.1074/jbc.M115.640136. Epub 2015 May 5.


Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.

Costales JL, Kolevzon A.

Neurotherapeutics. 2015 Jul;12(3):620-30. doi: 10.1007/s13311-015-0352-z. Review.


Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

Kozol RA, Cukier HN, Zou B, Mayo V, De Rubeis S, Cai G, Griswold AJ, Whitehead PL, Haines JL, Gilbert JR, Cuccaro ML, Martin ER, Baker JD, Buxbaum JD, Pericak-Vance MA, Dallman JE.

Hum Mol Genet. 2015 Jul 15;24(14):4006-23. doi: 10.1093/hmg/ddv138. Epub 2015 Apr 16.


Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Kolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, Rapaport R, Saland J, Srivastava S, Farrell C, Edelmann LJ, Buxbaum JD.

J Neurodev Disord. 2014;6(1):39. doi: 10.1186/1866-1955-6-39. Epub 2014 Oct 8. Review.


A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.

Kolevzon A, Bush L, Wang AT, Halpern D, Frank Y, Grodberg D, Rapaport R, Tavassoli T, Chaplin W, Soorya L, Buxbaum JD.

Mol Autism. 2014 Dec 12;5(1):54. doi: 10.1186/2040-2392-5-54. eCollection 2014. Erratum in: Mol Autism. 2015;6:31.


Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.

Li J, Shi M, Ma Z, Zhao S, Euskirchen G, Ziskin J, Urban A, Hallmayer J, Snyder M.

Mol Syst Biol. 2014 Dec 30;10:774. doi: 10.15252/msb.20145487.


Protein interaction networks reveal novel autism risk genes within GWAS statistical noise.

Correia C, Oliveira G, Vicente AM.

PLoS One. 2014 Nov 19;9(11):e112399. doi: 10.1371/journal.pone.0112399. eCollection 2014.


The discovery of integrated gene networks for autism and related disorders.

Hormozdiari F, Penn O, Borenstein E, Eichler EE.

Genome Res. 2015 Jan;25(1):142-54. doi: 10.1101/gr.178855.114. Epub 2014 Nov 5.


De novo TBR1 mutations in sporadic autism disrupt protein functions.

Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE.

Nat Commun. 2014 Sep 18;5:4954. doi: 10.1038/ncomms5954.

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