What does the developing brain tell us about neural diseases?

European Journal of Neuroscience

Volumn 35, Issue 12, 2012, Pages 1811-1817

  Stoeckli, Esther T ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Autism; Disease mechanisms; Intellectual disability; Neural circuit formation; Neurodegenerative diseases; Schizophrenia

Indexed keywords

WNT PROTEIN;

ALZHEIMER DISEASE; ARTICLE; AUTISM; BRAIN DEVELOPMENT; BRAIN FUNCTION; DEGENERATIVE DISEASE; DEVELOPMENTAL GENE; DISEASE MODEL; EUROPE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HERITABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; NERVE CELL DIFFERENTIATION; NERVE CELL PLASTICITY; NERVE FIBER; NEUROLOGIC DISEASE; NONHUMAN; PARKINSON DISEASE; PRIORITY JOURNAL; RETT SYNDROME; SCHIZOPHRENIA; SYNAPTOGENESIS;

ANIMALS; BIOMEDICAL RESEARCH; BRAIN; BRAIN DISEASES; CHILD; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT; MALE; MICE; MOLECULAR TARGETED THERAPY; NEUROPROTECTIVE AGENTS;

EID: 84862665655     PISSN: 0953816X     EISSN: 14609568     Source Type: Journal    
DOI: 10.1111/j.1460-9568.2012.08171.x     Document Type: Article

References (95)

1. Abbott, A. (2011) Novartis to shut brain research facility. Nature, 480, 161-162.
2. Angers, S. & Moon, R.T. (2009) Proximal events in Wnt signal transduction. Nat. Rev. Mol. Cell Biol., 10, 468-477.
3. Ataman, B., Ashley, J., Gorczyca, M., Ramachandran, P., Fouquet, W., Sigrist, S.J. & Budnik, V. (2008) Rapid activity-dependent modifications in synaptic structure and function require bidirectional Wnt signaling. Neuron, 57, 705-718.
4. Avila, M.E., Sepulveda, F.J., Burgos, C.F., Moraga-Cid, G., Parodi, J., Moon, R.T., Aguayo, L.G., Opazo, C. & De Ferrari, G.V. (2010) Canonical Wnt3a modulates intracellular calcium and enhances excitatory neurotransmission in hippocampal neurons. J. Biol. Chem., 285, 18939-18947.
5. Baeriswyl, T. & Stoeckli, E.T. (2008) Axonin-1/TAG-1 is required for pathfinding of granule cell axons in the developing cerebellum. Neural Dev., 3, 7.
6. Betancur, C., Sakurai, T. & Buxbaum, J.D. (2009) The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci., 32, 402-412.
7. Biederer, T., Sara, Y., Mozhayeva, M., Atasoy, D., Liu, X., Kavalali, E.T. & Sudhof, T.C. (2002) SynCAM, a synaptic adhesion molecule that drives synapse assembly. Science, 297, 1525-1531.
8. Brandon, N.J. & Sawa, A. (2011) Linking neurodevelopmental and synaptic theories of mental illness through DISC1. Nat. Rev. Neurosci., 12, 707-722.
9. Budnik, V. & Salinas, P.C. (2011) Wnt signaling during synaptic development and plasticity. Curr. Opin. Neurobiol., 21, 151-159.
10. Budreck, E.C. & Scheiffele, P. (2007) Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses. Eur. J. Neurosci., 26, 1738-1748.
11. Chahrour, M. & Zoghbi, H.Y. (2007) The story of Rett syndrome: from clinic to neurobiology. Neuron, 56, 422-437.
12. Chahrour, M., Jung, S.Y., Shaw, C., Zhou, X., Wong, S.T., Qin, J. & Zoghbi, H.Y. (2008) MeCP2, a key contributor to neurological disease, activates and represses transcription. Science, 320, 1224-1229.
13. Chen, S.Y., Huang, P.H. & Cheng, H.J. (2011) Disrupted-in-Schizophrenia 1-mediated axon guidance involves TRIO-RAC-PAK small GTPase pathway signaling. Proc. Natl. Acad. Sci. USA, 108, 5861-5866.
14. Conn, P.J., Lindsley, C.W. & Jones, C.K. (2009) Activation of metabotropic glutamate receptors as a novel approach for the treatment of schizophrenia. Trends Pharmacol. Sci., 30, 25-31.
15. Courchesne, E., Pierce, K., Schumann, C.M., Redcay, E., Buckwalter, J.A., Kennedy, D.P. & Morgan, J. (2007) Mapping early brain development in autism. Neuron, 56, 399-413.
16. Craig, A.M. & Kang, Y. (2007) Neurexin-neuroligin signaling in synapse development. Curr. Opin. Neurobiol., 17, 43-52.
17. Davis, E.K., Zou, Y. & Ghosh, A. (2008) Wnts acting through canonical and noncanonical signaling pathways exert opposite effects on hippocampal synapse formation. Neural Dev., 3, 32.
18. De Ferrari, G.V. & Moon, R.T. (2006) The ups and downs of Wnt signaling in prevalent neurological disorders. Oncogene, 25, 7545-7553.
19. Dean, C., Scholl, F.G., Choih, J., DeMaria, S., Berger, J., Isacoff, E. & Scheiffele, P. (2003) Neurexin mediates the assembly of presynaptic terminals. Nat. Neurosci., 6, 708-716.
20. Dickstein, D.L., Kabaso, D., Rocher, A.B., Luebke, J.I., Wearne, S.L. & Hof, P.R. (2007) Changes in the structural complexity of the aged brain. Aging Cell, 6, 275-284.
21. Doherty, D. (2009) Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin. Pediatr. Neurol., 16, 143-154.
22. Domanitskaya, E., Wacker, A., Mauti, O., Baeriswyl, T., Esteve, P., Bovolenta, P. & Stoeckli, E.T. (2010) Sonic hedgehog guides post-crossing commissural axons both directly and indirectly by regulating Wnt activity. J. Neurosci., 30, 11167-11176.
23. Ehninger, D., Li, W., Fox, K., Stryker, M.P. & Silva, A.J. (2008) Reversing neurodevelopmental disorders in adults. Neuron, 60, 950-960.
24. Engle, E.C. (2010) Human genetic disorders of axon guidance. Cold Spring Harb. Perspect. Biol., 2, a001784.
25. Fenstermaker, A.G., Prasad, A.A., Bechara, A., Adolfs, Y., Tissir, F., Goffinet, A., Zou, Y. & Pasterkamp, R.J. (2010) Wnt/planar cell polarity signaling controls the anterior-posterior organization of monoaminergic axons in the brainstem. J. Neurosci., 30, 16053-16064.
26. Field, J.R., Walker, A.G. & Conn, P.J. (2011) Targeting glutamate synapses in schizophrenia. Trends Mol. Med., 17, 689-698.
27. Fitzli, D., Stoeckli, E.T., Kunz, S., Siribour, K., Rader, C., Kunz, B., Kozlov, S.V., Buchstaller, A., Lane, R.P., Suter, D.M., Dreyer, W.J. & Sonderegger, P. (2000) A direct interaction of axonin-1 with NgCAM-related cell adhesion molecule (NrCAM) results in guidance, but not growth of commissural axons. J. Cell Biol., 149, 951-968.
28. Gaspar, P.A., Bustamante, M.L., Silva, H. & Aboitiz, F. (2009) Molecular mechanisms underlying glutamatergic dysfunction in schizophrenia: therapeutic implications. J. Neurochem., 111, 891-900.
29. Gejman, P.V., Sanders, A.R. & Kendler, K.S. (2011) Genetics of schizophrenia: new findings and challenges. Annu. Rev. Genomics Hum. Genet., 12, 121-144.
30. Geschwind, D.H. (2009) Advances in autism. Annu. Rev. Med., 60, 367-380.
31. Geschwind, D.H. & Levitt, P. (2007) Autism spectrum disorders: developmental disconnection syndromes. Curr. Opin. Neurobiol., 17, 103-111.
32. Gilman, S.R., Iossifov, I., Levy, D., Ronemus, M., Wigler, M. & Vitkup, D. (2011) Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron, 70, 898-907.
33. Glessner, J.T., Reilly, M.P., Kim, C.E., Takahashi, N., Albano, A., Hou, C., Bradfield, J.P., Zhang, H., Sleiman, P.M., Flory, J.H., Imielinski, M., Frackelton, E.C., Chiavacci, R., Thomas, K.A., Garris, M., Otieno, F.G., Davidson, M., Weiser, M., Reichenberg, A., Davis, K.L., Friedman, J.I., Cappola, T.P., Margulies, K.B., Rader, D.J., Grant, S.F., Buxbaum, J.D., Gur, R.E. & Hakonarson, H. (2010) Strong synaptic transmission impact by copy number variations in schizophrenia. Proc. Natl. Acad. Sci. USA, 107, 10584-10589.
34. Goetz, S.C. & Anderson, K.V. (2010) The primary cilium: a signaling centre during vertebrate development. Nat. Rev. Genet., 11, 331-344.
35. Gogolla, N., Galimberti, I., Deguchi, Y. & Caroni, P. (2009) Wnt signaling mediates experience-related regulation of synapse numbers and mossy fiber connectivities in the adult hippocampus. Neuron, 62, 510-525.
36. Gregório, S.P., Sallet, P.C., Do, K.A., Lin, E., Gattaz, W.F. & Dias-Neto, E. (2009) Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. Psychiatry Res., 165, 1-9.
37. Gustavsson, A., Svensson, M., Jacobi, F., Allgulander, C., Alonso, J., Beghi, E., Dodel, R., Ekman, M., Faravelli, C., Fratiglioni, L., Gannon, B., Jones, D.H., Jennum, P., Jordanova, A., Jonsson, L., Karampampa, K., Knapp, M., Kobelt, G., Kurth, T., Lieb, R., Linde, M., Ljungcrantz, C., Maercker, A., Melin, B., Moscarelli, M., Musayev, A., Norwood, F., Preisig, M., Pugliatti, M., Rehm, J., Salvador-Carulla, L., Schlehofer, B., Simon, R., Steinhausen, H.C., Stovner, L.J., Vallat, J.M., den Bergh, P.V., van Os, J., Vos, P., Xu, W., Wittchen, H.U., Jonsson, B. & Olesen, J. (2011) Cost of disorders of the brain in Europe 2010. Eur. Neuropsychopharmacol., 21, 718-779.
38. Guy, J., Gan, J., Selfridge, J., Cobb, S. & Bird, A. (2007) Reversal of neurological defects in a mouse model of Rett syndrome. Science, 315, 1143-1147.
39. Hall, A.C., Lucas, F.R. & Salinas, P.C. (2000) Axonal remodeling and synaptic differentiation in the cerebellum is regulated by WNT-7a signaling. Cell, 100, 525-535.
40. Hannula-Jouppi, K., Kaminen-Ahola, N., Taipale, M., Eklund, R., Nopola-Hemmi, J., Kääriäinen, H., Kere, J. (2005) The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet. 1, e50.
41. Hardy, J. & Williams, J. (2010) Identification of Alzheimer risk factors through whole-genome analysis. Arch. Neurol., 67, 663-664.
42. Hinman, J.D. & Abraham, C.R. (2007) What's behind the decline? The role of white matter in brain aging. Neurochem. Res., 32, 2023-2031.
43. Inestrosa, N.C. & Arenas, E. (2010) Emerging roles of Wnts in the adult nervous system. Nat. Rev. Neurosci., 11, 77-86.
44. Jamain, S., Quach, H., Betancur, C., Rastam, M., Colineaux, C., Gillberg, I.C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C. & Bourgeron, T. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet., 34, 27-29.
45. Juric-Sekhar, G., Adkins, J., Doherty, D. & Hevner, R.F. (2012) Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. Acta Neuropathol., 123, 695-709.
46. Kang, E., Burdick, K.E., Kim, J.Y., Duan, X., Guo, J.U., Sailor, K.A., Jung, D.E., Ganesan, S., Choi, S., Pradhan, D., Lu, B., Avramopoulos, D., Christian, K., Malhotra, A.K., Song, H. & Ming, G.L. (2011) Interaction between FEZ1 and DISC1 in regulation of neuronal development and risk for schizophrenia. Neuron, 72, 559-571.
47. Kenwrick, S., Jouet, M. & Donnai, D. (1996) X linked hydrocephalus and MASA syndrome. J. Med. Genet., 33, 59-65.
48. Krylova, O., Herreros, J., Cleverley, K.E., Ehler, E., Henriquez, J.P., Hughes, S.M. & Salinas, P.C. (2002) WNT-3, expressed by motoneurons, regulates terminal arborization of neurotrophin-3-responsive spinal sensory neurons. Neuron, 35, 1043-1056.
49. Kurumaji, A., Nomoto, H., Okano, T. & Toru, M. (2001) An association study between polymorphism of L1CAM gene and schizophrenia in a Japanese sample. Am. J. Med. Genet., 105, 99-104.
50. Laifenfeld, D., Karry, R., Klein, E. & Ben-Shachar, D. (2005) Alterations in cell adhesion molecule L1 and functionally related genes in major depression: a postmortem study. Biol. Psychiatry, 57, 716-725.
51. Lesnick, T.G., Papapetropoulos, S., Mash, D.C., Ffrench-Mullen, J., Shehadeh, L., de Andrade, M., Henley, J.R., Rocca, W.A., Ahlskog, J.E. & Maraganore, D.M. (2007) A genomic pathway approach to a complex disease: axon guidance and Parkinson disease. PLoS Genet., 3, e98.
52. Lewis, D.A. & Levitt, P. (2002) Schizophrenia as a disorder of neurodevelopment. Annu. Rev. Neurosci., 25, 409-432.
53. Lewis, D.A. & Lieberman, J.A. (2000) Catching up on schizophrenia: natural history and neurobiology. Neuron, 28, 325-334.
54. Lin, L., Lesnick, T.G., Maraganore, D.M. & Isacson, O. (2009) Axon guidance and synaptic maintenance: preclinical markers for neurodegenerative disease and therapeutics. Trends Neurosci., 32, 142-149.
55. Liu, Y., Shi, J., Lu, C.C., Wang, Z.B., Lyuksyutova, A.I., Song, X.J. & Zou, Y. (2005) Ryk-mediated Wnt repulsion regulates posterior-directed growth of corticospinal tract. Nat. Neurosci., 8, 1151-1159.
56. Logan, C.Y. & Nusse, R. (2004) The Wnt signaling pathway in development and disease. Annu. Rev. Cell Dev. Biol., 20, 781-810.
57. Louvi, A. & Grove, E.A. (2011) Cilia in the CNS: the quiet organelle claims center stage. Neuron, 69, 1046-1060.
58. Lucas, F.R. & Salinas, P.C. (1997) WNT-7a induces axonal remodeling and increases synapsin I levels in cerebellar neurons. Dev. Biol., 192, 31-44.
59. Lyuksyutova, A.I., Lu, C.C., Milanesio, N., King, L.A., Guo, N., Wang, Y., Nathans, J., Tessier-Lavigne, M. & Zou, Y. (2003) Anterior-posterior guidance of commissural axons by Wnt-frizzled signaling. Science, 302, 1984-1988.
60. Marin, O. (2012) Interneuron dysfunction in psychiatric disorders. Nat. Rev. Neurosci., 13, 107-120.
61. Marshall, C.R., Noor, A., Vincent, J.B., Lionel, A.C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., Thiruvahindrapduram, B., Fiebig, A., Schreiber, S., Friedman, J., Ketelaars, C.E., Vos, Y.J., Ficicioglu, C., Kirkpatrick, S., Nicolson, R., Sloman, L., Summers, A., Gibbons, C.A., Teebi, A., Chitayat, D., Weksberg, R., Thompson, A., Vardy, C., Crosbie, V., Luscombe, S., Baatjes, R., Zwaigenbaum, L., Roberts, W., Fernandez, B., Szatmari, P. & Scherer, S.W. (2008) Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet., 82, 477-488.
62. Maski, K.P., Jeste, S.S. & Spence, S.J. (2011) Common neurological co-morbidities in autism spectrum disorders. Curr. Opin. Pediatr., 23, 609-615.
63. Mitchell, K.J. (2011) The genetics of neurodevelopmental disease. Curr. Opin. Neurobiol., 21, 197-203.
64. Miyoshi, K., Honda, A., Baba, K., Taniguchi, M., Oono, K., Fujita, T., Kuroda, S., Katayama, T. & Tohyama, M. (2003) Disrupted-In-Schizophrenia 1, a candidate gene for schizophrenia, participates in neurite outgrowth. Mol. Psychiatry, 8, 685-694.
65. Muglia, P. (2011) From genes to therapeutic targets for psychiatric disorders - what to expect? Curr. Opin. Pharmacol., 11, 563-571.
66. Niederkofler, V., Baeriswyl, T., Ott, R. & Stoeckli, E.T. (2010) Nectin-like molecules/SynCAMs are required for post-crossing commissural axon guidance. Development, 137, 427-435.
67. Pekarik, V., Bourikas, D., Miglino, N., Joset, P., Preiswerk, S. & Stoeckli, E.T. (2003) Screening for gene function in chicken embryo using RNAi and electroporation. Nat. Biotechnol., 21, 93-96.
68. Penagarikano, O., Abrahams, B.S., Herman, E.I., Winden, K.D., Gdalyahu, A., Dong, H., Sonnenblick, L.I., Gruver, R., Almajano, J., Bragin, A., Golshani, P., Trachtenberg, J.T., Peles, E. & Geschwind, D.H. (2011) Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell, 147, 235-246.
69. Perrin, F.E., Rathjen, F.G. & Stoeckli, E.T. (2001) Distinct subpopulations of sensory afferents require F11 or axonin-1 for growth to their target layers within the spinal cord of the chick. Neuron, 30, 707-723.
70. Pinto, D., Pagnamenta, A.T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T.R., Correia, C., Abrahams, B.S., Almeida, J., Bacchelli, E., Bader, G.D., Bailey, A.J., Baird, G., Battaglia, A., Berney, T., Bolshakova, N., Bolte, S., Bolton, P.F., Bourgeron, T., Brennan, S., Brian, J., Bryson, S.E., Carson, A.R., Casallo, G., Casey, J., Chung, B.H., Cochrane, L., Corsello, C., Crawford, E.L., Crossett, A., Cytrynbaum, C., Dawson, G., de Jonge, M., Delorme, R., Drmic, I., Duketis, E., Duque, F., Estes, A., Farrar, P., Fernandez, B.A., Folstein, S.E., Fombonne, E., Freitag, C.M., Gilbert, J., Gillberg, C., Glessner, J.T., Goldberg, J., Green, A., Green, J., Guter, S.J., Hakonarson, H., Heron, E.A., Hill, M., Holt, R., Howe, J.L., Hughes, G., Hus, V., Igliozzi, R., Kim, C., Klauck, S.M., Kolevzon, A., Korvatska, O., Kustanovich, V., Lajonchere, C.M., Lamb, J.A., Laskawiec, M., Leboyer, M., Le Couteur, A., Leventhal, B.L., Lionel, A.C., Liu, X.Q., Lord, C., Lotspeich, L., Lund, S.C., Maestrini, E., Mahoney, W., Mantoulan, C., Marshall, C.R., McConachie, H., McDougle, C.J., McGrath, J., McMahon, W.M., Merikangas, A., Migita, O., Minshew, N.J., Mirza, G.K., Munson, J., Nelson, S.F., Noakes, C., Noor, A., Nygren, G., Oliveira, G., Papanikolaou, K., Parr, J.R., Parrini, B., Paton, T., Pickles, A., Pilorge, M., Piven, J., Ponting, C.P., Posey, D.J., Poustka, A., Poustka, F., Prasad, A., Ragoussis, J., Renshaw, K., Rickaby, J., Roberts, W., Roeder, K., Roge, B., Rutter, M.L., Bierut, L.J., Rice, J.P., Salt, J., Sansom, K., Sato, D., Segurado, R., Sequeira, A.F., Senman, L., Shah, N., Sheffield, V.C., Soorya, L., Sousa, I., Stein, O., Sykes, N., Stoppioni, V., Strawbridge, C., Tancredi, R., Tansey, K., Thiruvahindrapduram, B., Thompson, A.P., Thomson, S., Tryfon, A., Tsiantis, J., Van Engeland, H., Vincent, J.B., Volkmar, F., Wallace, S., Wang, K., Wang, Z., Wassink, T.H., Webber, C., Weksberg, R., Wing, K., Wittemeyer, K., Wood, S., Wu, J., Yaspan, B.L., Zurawiecki, D., Zwaigenbaum, L., Buxbaum, J.D., Cantor, R.M., Cook, E.H., Coon, H., Cuccaro, M.L., Devlin, B., Ennis, S., Gallagher, L., Geschwind, D.H., Gill, M., Haines, J.L., Hallmayer, J., Miller, J., Monaco, A.P., Nurnberger, J.I. Jr, Paterson, A.D., Pericak-Vance, M.A., Schellenberg, G.D., Szatmari, P., Vicente, A.M., Vieland, V.J., Wijsman, E.M., Scherer, S.W., Sutcliffe, J.S. & Betancur, C. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466, 368-372.
71. + channels in myelinated axons depends on Caspr2 and TAG-1. J. Cell Biol., 162, 1149-1160.
72. Poretti, A., Boltshauser, E., Loenneker, T., Valente, E.M., Brancati, F., Il'yasov, K. & Huisman, T.A. (2007) Diffusion tensor imaging in Joubert syndrome. AJNR Am. J. Neuroradiol., 28, 1929-1933.
73. Rico, B. & Marin, O. (2011) Neuregulin signaling, cortical circuitry development and schizophrenia. Curr. Opin. Genet. Dev., 21, 262-270.
74. Rodriguez-Murillo, L., Gogos, J.A. & Karayiorgou, M. (2012) The genetic architecture of schizophrenia: new mutations and emerging paradigms. Annu. Rev. Med., 63, 63-80.
75. Roohi, J., Montagna, C., Tegay, D.H., Palmer, L.E., DeVincent, C., Pomeroy, J.C., Christian, S.L., Nowak, N. & Hatchwell, E. (2009) Disruption of contactin 4 in three subjects with autism spectrum disorder. J. Med. Genet., 46, 176-182.
76. Ross, C.A., Margolis, R.L., Reading, S.A., Pletnikov, M. & Coyle, J.T. (2006) Neurobiology of schizophrenia. Neuron, 52, 139-153.
77. Salinas, P.C. (2005) Signaling at the vertebrate synapse: new roles for embryonic morphogens? J. Neurobiol., 64, 435-445.
78. Scheiffele, P., Fan, J., Choih, J., Fetter, R. & Serafini, T. (2000) Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell, 101, 657-669.
79. Schmitt, A.M., Shi, J., Wolf, A.M., Lu, C.C., King, L.A. & Zou, Y. (2006) Wnt-Ryk signalling mediates medial-lateral retinotectal topographic mapping. Nature, 439, 31-37.
80. Schmitt, A., Hasan, A., Gruber, O. & Falkai, P. (2011) Schizophrenia as a disorder of disconnectivity. Eur. Arch. Psychiatry Clin. Neurosci., 261(Suppl 2), S150-S154.
81. Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., Leotta, A., Pai, D., Zhang, R., Lee, Y.H., Hicks, J., Spence, S.J., Lee, A.T., Puura, K., Lehtimaki, T., Ledbetter, D., Gregersen, P.K., Bregman, J., Sutcliffe, J.S., Jobanputra, V., Chung, W., Warburton, D., King, M.C., Skuse, D., Geschwind, D.H., Gilliam, T.C., Ye, K. & Wigler, M. (2007) Strong association of de novo copy number mutations with autism. Science, 316, 445-449.
82. Shafer, B., Onishi, K., Lo, C., Colakoglu, G. & Zou, Y. (2011) Vangl2 promotes Wnt/planar cell polarity-like signaling by antagonizing Dvl1-mediated feedback inhibition in growth cone guidance. Dev. Cell, 20, 177-191.
83. Shepherd, G.M. & Katz, D.M. (2011) Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met. Curr. Opin. Neurobiol., 21, 827-833.
84. Singh, K.K., De Rienzo, G., Drane, L., Mao, Y., Flood, Z., Madison, J., Ferreira, M., Bergen, S., King, C., Sklar, P., Sive, H. & Tsai, L.H. (2011) Common DISC1 polymorphisms disrupt Wnt/GSK3beta signaling and brain development. Neuron, 72, 545-558.
85. Stoeckli, E.T. (2010) Neural circuit formation in the cerebellum is controlled by cell adhesion molecules of the Contactin family. Cell Adh. Migr., 4, 523-526.
86. Stoeckli, E.T. & Landmesser, L.T. (1995) Axonin-1, Nr-CAM, and Ng-CAM play different roles in the in vivo guidance of chick commissural neurons. Neuron, 14, 1165-1179.
87. Traka, M., Goutebroze, L., Denisenko, N., Bessa, M., Nifli, A., Havaki, S., Iwakura, Y., Fukamauchi, F., Watanabe, K., Soliven, B., Girault, J.A. & Karagogeos, D. (2003) Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers. J. Cell Biol., 162, 1161-1172.
88. Varoqueaux, F., Aramuni, G., Rawson, R.L., Mohrmann, R., Missler, M., Gottmann, K., Zhang, W., Sudhof, T.C. & Brose, N. (2006) Neuroligins determine synapse maturation and function. Neuron, 51, 741-754.
89. Vernes, S.C., Newbury, D.F., Abrahams, B.S., Winchester, L., Nicod, J., Groszer, M., Alarcon, M., Oliver, P.L., Davies, K.E., Geschwind, D.H., Monaco, A.P. & Fisher, S.E. (2008) A functional genetic link between distinct developmental language disorders. N. Engl. J. Med., 359, 2337-2345.
90. Wallace, V.A. (1999) Purkinje-cell-derived Sonic hedgehog regulates granule neuron precursor cell proliferation in the developing mouse cerebellum. Curr. Biol., 9, 445-448.
91. Walsh, T., McClellan, J.M., McCarthy, S.E., Addington, A.M., Pierce, S.B., Cooper, G.M., Nord, A.S., Kusenda, M., Malhotra, D., Bhandari, A., Stray, S.M., Rippey, C.F., Roccanova, P., Makarov, V., Lakshmi, B., Findling, R.L., Sikich, L., Stromberg, T., Merriman, B., Gogtay, N., Butler, P., Eckstrand, K., Noory, L., Gochman, P., Long, R., Chen, Z., Davis, S., Baker, C., Eichler, E.E., Meltzer, P.S., Nelson, S.F., Singleton, A.B., Lee, M.K., Rapoport, J.L., King, M.C. & Sebat, J. (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science, 320, 539-543.
92. Wong, E.V., Kenwrick, S., Willems, P. & Lemmon, V. (1995) Mutations in the cell adhesion molecule L1 cause mental retardation. Trends Neurosci., 18, 168-172.
93. Wray, N.R., Pergadia, M.L., Blackwood, D.H., Penninx, B.W., Gordon, S.D., Nyholt, D.R., Ripke, S., MacIntyre, D.J., McGhee, K.A., Maclean, A.W., Smit, J.H., Hottenga, J.J., Willemsen, G., Middeldorp, C.M., de Geus, E.J., Lewis, C.M., McGuffin, P., Hickie, I.B., van den Oord, E.J., Liu, J.Z., Macgregor, S., McEvoy, B.P., Byrne, E.M., Medland, S.E., Statham, D.J., Henders, A.K., Heath, A.C., Montgomery, G.W., Martin, N.G., Boomsma, D.I., Madden, P.A. & Sullivan, P.F. (2012) Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. Mol. Psychiatry, 17, 36-48.
94. Xu, B., Roos, J.L., Levy, S., van Rensburg, E.J., Gogos, J.A. & Karayiorgou, M. (2008) Strong association of de novo copy number mutations with sporadic schizophrenia. Nat. Genet., 40, 880-885.
95. Xu, B., Roos, J.L., Dexheimer, P., Boone, B., Plummer, B., Levy, S., Gogos, J.A. & Karayiorgou, M. (2011) Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat. Genet., 43, 864-868.