-
1
-
-
42349095075
-
Advances in autismgenetics: On the threshold of a new neurobiology
-
Abrahams, B. S.& Geschwind, D. H. Advances in autismgenetics: on the threshold of a new neurobiology. Nature Rev. Genet. 9, 341-355 (2008).
-
(2008)
Nature Rev. Genet.
, vol.9
, pp. 341-355
-
-
Abrahams, B.S.1
Geschwind, D.H.2
-
2
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain, S. et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genet. 34, 27-29 (2003).
-
(2003)
Nature Genet.
, vol.34
, pp. 27-29
-
-
Jamain, S.1
-
3
-
-
79960627779
-
An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus
-
Etherton, M. R., Tabuchi, K., Sharma, M., Ko, J.&Südhof, T. C. An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus. EMBO J. 30, 2908-2919 (2011).
-
(2011)
EMBO J.
, vol.30
, pp. 2908-2919
-
-
Etherton, M.R.1
Tabuchi, K.2
Sharma, M.3
Ko, J.4
Südhof, T.C.5
-
4
-
-
38749084216
-
Disruptionof neurexin1 associated with autismspectrumdisorder
-
Kim, H. G. et al. Disruptionof neurexin1 associated with autismspectrumdisorder. Am. J. Hum. Genet. 82, 199-207 (2008).
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 199-207
-
-
Kim, H.G.1
-
5
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
Pinto, D. et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368-372 (2010).
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
-
6
-
-
36749040875
-
Contribution of SHANK3 mutations to autism spectrum disorder
-
Moessner, R. et al. Contribution of SHANK3 mutations to autism spectrum disorder. Am. J. Hum. Genet. 81, 1289-1297 (2007).
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 1289-1297
-
-
Moessner, R.1
-
7
-
-
63449111560
-
Novel de novo SHANK3 mutation in autistic patients
-
Gauthier, J. et al. Novel de novo SHANK3 mutation in autistic patients. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 150B, 421-424 (2009).
-
(2009)
Am. J. Med. Genet. B. Neuropsychiatr. Genet.
, vol.150 B
, pp. 421-424
-
-
Gauthier, J.1
-
8
-
-
33845889998
-
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autismspectrum disorders
-
Durand, C. M. et al.Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autismspectrum disorders. Nature Genet. 39, 25-27 (2007).
-
(2007)
Nature Genet.
, vol.39
, pp. 25-27
-
-
Durand, C.M.1
-
9
-
-
77952827032
-
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
-
Berkel, S. et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nature Genet. 42, 489-491 (2010).
-
(2010)
Nature Genet.
, vol.42
, pp. 489-491
-
-
Berkel, S.1
-
10
-
-
84859066832
-
Genetic and functional analyses of SHANK2 mutations provide evidence for a multiple hit model of autism spectrum disorders
-
Leblond, C. S. et al. Genetic and functional analyses of SHANK2 mutations provide evidence for a multiple hit model of autism spectrum disorders. PLoS Genet. 8, e1002521 (2012).
-
(2012)
PLoS Genet.
, vol.8
-
-
Leblond, C.S.1
-
11
-
-
31544482776
-
An architectural framework that may lie at the core of the postsynaptic density
-
Baron, M. K. et al. An architectural framework that may lie at the core of the postsynaptic density. Science 311, 531-535 (2006).
-
(2006)
Science
, vol.311
, pp. 531-535
-
-
Baron, M.K.1
-
12
-
-
79551596834
-
Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation
-
Grabrucker, A. M. et al. Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation. EMBO J. 30, 569-581 (2011).
-
(2011)
EMBO J.
, vol.30
, pp. 569-581
-
-
Grabrucker, A.M.1
-
13
-
-
77955093058
-
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
-
Toro, R. et al. Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet. 26, 363-372 (2010).
-
(2010)
Trends Genet.
, vol.26
, pp. 363-372
-
-
Toro, R.1
-
14
-
-
80053101302
-
Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies
-
Grabrucker, A. M., Schmeisser, M. J., Schoen, M. & Boeckers, T. M. Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies. Trends Cell Biol. 21, 594-603 (2011).
-
(2011)
Trends Cell Biol.
, vol.21
, pp. 594-603
-
-
Grabrucker, A.M.1
Schmeisser, M.J.2
Schoen, M.3
Boeckers, T.M.4
-
15
-
-
79952484202
-
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability
-
Hamdan, F. F. et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am. J. Hum. Genet. 88, 306-316 (2011).
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 306-316
-
-
Hamdan, F.F.1
-
16
-
-
80054889797
-
Haploinsufficiency of the autism-associatedShank3geneleads to deficits in synaptic function social interaction and social communication
-
Bozdagi, O. et al.Haploinsufficiency of the autism- associatedShank3geneleads to deficits in synaptic function, social interaction, and social communication. Mol. Autism 1, 15 (2010).
-
(2010)
Mol. Autism
, vol.1
, pp. 15
-
-
Bozdagi, O.1
-
17
-
-
79955536349
-
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
-
Peca, J. et al. Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature 472, 437-442 (2011).
-
(2011)
Nature
, vol.472
, pp. 437-442
-
-
Peca, J.1
-
18
-
-
79960111638
-
Synaptic dysfunction and abnormal behaviors in mice lackingmajor isoforms of Shank3
-
Wang, X. et al.Synaptic dysfunction and abnormal behaviors in mice lackingmajor isoforms of Shank3. Hum. Mol. Genet. 20, 3093-3108 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 3093-3108
-
-
Wang, X.1
-
19
-
-
79957543879
-
Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism
-
Bangash, M. A. et al. Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism. Cell 145, 758-772 (2011).
-
(2011)
Cell
, vol.145
, pp. 758-772
-
-
Bangash, M.A.1
-
20
-
-
78149431869
-
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
-
Chao, H. T. et al. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature 468, 263-269 (2010).
-
(2010)
Nature
, vol.468
, pp. 263-269
-
-
Chao, H.T.1
-
21
-
-
33344471941
-
Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice
-
Gemelli, T. et al. Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice. Biol. Psychiatry 59, 468-476 (2006).
-
(2006)
Biol. Psychiatry
, vol.59
, pp. 468-476
-
-
Gemelli, T.1
-
22
-
-
0033178969
-
Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density
-
Boeckers, T. M. et al. Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density. J. Neurosci. 19, 6506-6518 (1999).
-
(1999)
J. Neurosci.
, vol.19
, pp. 6506-6518
-
-
Boeckers, T.M.1
-
23
-
-
84855413477
-
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology
-
Berkel, S. et al. Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. Hum. Mol. Genet. 21, 344-357 (2012).
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 344-357
-
-
Berkel, S.1
-
24
-
-
35148858044
-
A neuroligin-3mutation implicated in autismincreases inhibitory synaptic transmission in mice
-
Tabuchi, K. et al. A neuroligin-3mutation implicated in autismincreases inhibitory synaptic transmission in mice. Science 318, 71-76 (2007).
-
(2007)
Science
, vol.318
, pp. 71-76
-
-
Tabuchi, K.1
-
25
-
-
79951782035
-
Motor and cognitive stereotypies in the BTBR T1tf/J mouse model of autism
-
Pearson, B. L. et al. Motor and cognitive stereotypies in the BTBR T1tf/J mouse model of autism. Genes Brain Behav. 10, 228-235 (2011).
-
(2011)
Genes Brain Behav.
, vol.10
, pp. 228-235
-
-
Pearson, B.L.1
-
26
-
-
39549100993
-
Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1
-
Hung, A. Y. et al. Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. J. Neurosci. 28, 1697-1708 (2008).
-
(2008)
J. Neurosci.
, vol.28
, pp. 1697-1708
-
-
Hung, A.Y.1
-
27
-
-
79958260360
-
Communication impairments in mice lacking Shank1: Reduced levels of ultrasonic vocalizations and scent marking behavior
-
Wohr, M., Roullet, F. I., Hung, A. Y., Sheng, M. & Crawley, J. N. Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior. PLoS ONE 6, e20631 (2011).
-
(2011)
PLoS ONE
, vol.6
-
-
Wohr, M.1
Roullet, F.I.2
Hung, A.Y.3
Sheng, M.4
Crawley, J.N.5
-
28
-
-
79952314377
-
Sociability and motor functions in Shank1mutant mice
-
Silverman, J. L. et al. Sociability and motor functions in Shank1mutant mice. Brain Res. 1380, 120-137 (2011).
-
(2011)
Brain Res.
, vol.1380
, pp. 120-137
-
-
Silverman, J.L.1
-
29
-
-
79951562124
-
Behavioral profiles of mouse models for autism spectrum disorders
-
Ey, E., Leblond, C. S. & Bourgeron, T. Behavioral profiles of mouse models for autism spectrum disorders. Autism Res. 4, 5-16 (2011).
-
(2011)
Autism Res.
, vol.4
, pp. 5-16
-
-
Ey, E.1
Leblond, C.S.2
Bourgeron, T.3
-
30
-
-
70350357210
-
Synaptic cross-talk between N-methyl-D-aspartate receptors and LAPSER1-beta-catenin at excitatory synapses
-
Schmeisser, M. J., Grabrucker, A. M., Bockmann, J. & Boeckers, T. M. Synaptic cross-talk between N-methyl-D-aspartate receptors and LAPSER1-beta-catenin at excitatory synapses. J. Biol. Chem. 284, 29146-29157 (2009).
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 29146-29157
-
-
Schmeisser, M.J.1
Grabrucker, A.M.2
Bockmann, J.3
Boeckers, T.M.4
-
31
-
-
0033178969
-
Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density
-
Boeckers, T. M. et al. Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density. J. Neurosci. 19, 6506-6518 (1999).
-
(1999)
J. Neurosci.
, vol.19
, pp. 6506-6518
-
-
Boeckers, T.M.1
-
32
-
-
79551596834
-
Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation
-
Grabrucker, A. M. et al. Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation. EMBO J. 30, 569-581 (2011).
-
(2011)
EMBO J.
, vol.30
, pp. 569-581
-
-
Grabrucker, A.M.1
-
33
-
-
0040435762
-
Somatostatin receptor interacting protein defines a novel family of multidomain proteins present in human and rodent brain
-
Zitzer, H.,Hoenck, H. H., Baechner, D., Richter, D.& Kreienkamp, H. J. Somatostatin receptor interacting protein defines a novel family of multidomain proteins present in human and rodent brain. J. Biol. Chem. 274, 32997-33001 (1999).
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 32997-33001
-
-
Zitzer, H.1
Hoenck, H.H.2
Baechner, D.3
Richter, D.4
Kreienkamp, H.J.5
-
34
-
-
0141542657
-
Presynaptic kainate receptors impart an associative property to hippocampal mossy fiber long-term potentiation
-
Schmitz, D., Mellor, J., Breustedt, J. & Nicoll, R. A. Presynaptic kainate receptors impart an associative property to hippocampal mossy fiber long-term potentiation. Nature Neurosci. 6, 1058-1063 (2003).
-
(2003)
Nature Neurosci.
, vol.6
, pp. 1058-1063
-
-
Schmitz, D.1
Mellor, J.2
Breustedt, J.3
Nicoll, R.A.4
-
35
-
-
0002189671
-
-
(eds Windhorst U. & Johansson H.) Springer
-
Wishaw, I. Q., Haun, F. & Kolb, B. in Modern Techniques in Neuroscience (eds Windhorst, U. & Johansson, H.) 1243-1275 (Springer, 1999).
-
(1999)
Modern Techniques in Neuroscience
, pp. 1243-1275
-
-
Wishaw, I.Q.1
Haun, F.2
Kolb, B.3
-
36
-
-
0031255352
-
Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment
-
Rogers, D. C. et al. Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment. Mamm. Genome 8, 711-713 (1997).
-
(1997)
Mamm. Genome
, vol.8
, pp. 711-713
-
-
Rogers, D.C.1
-
37
-
-
4644333560
-
Automated apparatus for quantitation of social approach behaviors in mice
-
Nadler, J. J. et al. Automated apparatus for quantitation of social approach behaviors in mice. Genes Brain Behav. 3, 303-314 (2004).
-
(2004)
Genes Brain Behav.
, vol.3
, pp. 303-314
-
-
Nadler, J.J.1
-
38
-
-
85035138410
-
-
(eds Fisch G.S. & Flint J.) Humana Press
-
Bourgeron, T., Jamain, S. & Granon, S. in Contemporary Clinical Neuroscience: Transgenic and Knockout Models of Neuropsychiatric Disorders (eds Fisch, G.S. & Flint, J.) 151-174 (Humana Press, 2006).
-
(2006)
Contemporary Clinical Neuroscience: Transgenic and Knockout Models of Neuropsychiatric Disorders
, pp. 151-174
-
-
Bourgeron, T.1
Jamain, S.2
Granon, S.3
-
39
-
-
0036841466
-
Misguided axonal projections NCAM180 mRNA upregulation, and altered behavior in mice deficient for the close homolog of L1 (CHL1)
-
Montag-Sallaz, M., Schachner, M. & Montag, D. Misguided axonal projections, NCAM180 mRNA upregulation, and altered behavior in mice deficient for the close homolog of L1 (CHL1). Mol. Cell. Biol. 22, 7967-7981 (2002).
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 7967-7981
-
-
Montag-Sallaz, M.1
Schachner, M.2
Montag, D.3
-
40
-
-
78751692683
-
Unusual repertoire of vocalizations in adult BTBR T1tf/J mice during three types of social encounters
-
Scattoni, M. L. Unusual repertoire of vocalizations in adult BTBR T1tf/J mice during three types of social encounters. Genes Brain Behav. 10, 44-56 (2011).
-
(2011)
Genes Brain Behav.
, vol.10
, pp. 44-56
-
-
Scattoni, M.L.1
|