-
1
-
-
42349095075
-
Advances in autism genetics: on the threshold of a new neurobiology
-
Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet (2008) 9:341-55. doi: 10.1038/nrg2346
-
(2008)
Nat Rev Genet
, vol.9
, pp. 341-355
-
-
Abrahams, B.S.1
Geschwind, D.H.2
-
2
-
-
65249140471
-
The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders
-
Levitt P, Campbell DB. The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. J Clin Invest (2009) 119:747-54. doi:10.1172/JCI37934
-
(2009)
J Clin Invest
, vol.119
, pp. 747-754
-
-
Levitt, P.1
Campbell, D.B.2
-
4
-
-
84899918742
-
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
-
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet (2014) 294:677-94. doi:10.1016/j.ajhg.2014.03.018
-
(2014)
Am J Hum Genet
, vol.294
, pp. 677-694
-
-
Pinto, D.1
Delaby, E.2
Merico, D.3
Barbosa, M.4
Merikangas, A.5
Klei, L.6
-
5
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain S, Quach H, Betancur C, Råstam M, Colineaux C, Gillberg IC, et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet (2003) 34:27-9. doi:10.1038/ng1136
-
(2003)
Nat Genet
, vol.34
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Råstam, M.4
Colineaux, C.5
Gillberg, I.C.6
-
6
-
-
0242300623
-
Postnatal neurodevelopmental disorders: meeting at the synapse?
-
Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science (2003) 302:826-30. doi:10.1126/science.1089071
-
(2003)
Science
, vol.302
, pp. 826-830
-
-
Zoghbi, H.Y.1
-
7
-
-
54049091941
-
Neuroligins and neurexins link synaptic function to cognitive disease
-
Sudhof TC. Neuroligins and neurexins link synaptic function to cognitive disease. Nature (2008) 455:903-11. doi:10.1038/nature07456
-
(2008)
Nature
, vol.455
, pp. 903-911
-
-
Sudhof, T.C.1
-
8
-
-
67649400549
-
The emerging role of synaptic cell adhesion pathways in the pathogenesis of autism spectrum disorders
-
Bentacur C, Sakurai T, Buxbaum JD. The emerging role of synaptic cell adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci (2009) 32:402-12. doi:10.1016/j.tins.2009.04.003
-
(2009)
Trends Neurosci
, vol.32
, pp. 402-412
-
-
Bentacur, C.1
Sakurai, T.2
Buxbaum, J.D.3
-
9
-
-
84864584881
-
Cadherins and neuropsychiatric disorders
-
Redies C, Hertel N, Hübner CA. Cadherins and neuropsychiatric disorders. Brain Res (2012) 1470:130-44. doi:10.1016/j.brainres.2012.06.020
-
(2012)
Brain Res
, vol.1470
, pp. 130-144
-
-
Redies, C.1
Hertel, N.2
Hübner, C.A.3
-
10
-
-
84876070991
-
Modeling autism by SHANK gene mutations in mice
-
Jiang YH, Ehlers MD. Modeling autism by SHANK gene mutations in mice. Neuron (2013) 78:8-27. doi:10.1016/j.neuron.2013.03.016
-
(2013)
Neuron
, vol.78
, pp. 8-27
-
-
Jiang, Y.H.1
Ehlers, M.D.2
-
11
-
-
0037371673
-
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes
-
Shao Y, Cuccaro ML, Hauser ER, Raiford KL, Menold MM, Wolpert CM, et al. Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet (2003) 72:539-48. doi:10.1086/367846
-
(2003)
Am J Hum Genet
, vol.72
, pp. 539-548
-
-
Shao, Y.1
Cuccaro, M.L.2
Hauser, E.R.3
Raiford, K.L.4
Menold, M.M.5
Wolpert, C.M.6
-
12
-
-
84864087818
-
Genes associated with autism spectrum disorder
-
Li X, Zou H, Brown WT. Genes associated with autism spectrum disorder. Brain Res Bull (2012) 88:543-52. doi:10.1016/j.brainresbull.2012.05.017
-
(2012)
Brain Res Bull
, vol.88
, pp. 543-552
-
-
Li, X.1
Zou, H.2
Brown, W.T.3
-
13
-
-
84890256389
-
Channelopathy pathogenesis in autism spectrum disorders
-
Schmunk G, Gargus JJ. Channelopathy pathogenesis in autism spectrum disorders. Front Genet (2013) 4:222. doi:10.3389/fgene.2013.00222
-
(2013)
Front Genet
, vol.4
, pp. 222
-
-
Schmunk, G.1
Gargus, J.J.2
-
14
-
-
57049170205
-
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
-
Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, et al. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Hum Mol Genet (2008) 17:3965-74. doi:10.1093/hmg/ddn300
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3965-3974
-
-
Piton, A.1
Michaud, J.L.2
Peng, H.3
Aradhya, S.4
Gauthier, J.5
Mottron, L.6
-
15
-
-
77349112962
-
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
-
Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, et al. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet (2010) 47:81-90. doi:10.1136/jmg.2008.065821
-
(2010)
J Med Genet
, vol.47
, pp. 81-90
-
-
Kumar, R.A.1
Sudi, J.2
Babatz, T.D.3
Brune, C.W.4
Oswald, D.5
Yen, M.6
-
16
-
-
79954982769
-
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism
-
Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, et al. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biol Psychiatry (2011) 69:898-901. doi:10.1016/j.biopsych.2010.11.015
-
(2011)
Biol Psychiatry
, vol.69
, pp. 898-901
-
-
Hamdan, F.F.1
Daoud, H.2
Piton, A.3
Gauthier, J.4
Dobrzeniecka, S.5
Krebs, M.O.6
-
17
-
-
84873099026
-
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency
-
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, et al. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat (2013) 34:385-94. doi:10.1002/humu.22248
-
(2013)
Hum Mutat
, vol.34
, pp. 385-394
-
-
Berryer, M.H.1
Hamdan, F.F.2
Klitten, L.L.3
Møller, R.S.4
Carmant, L.5
Schwartzentruber, J.6
-
18
-
-
84862659562
-
Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities
-
Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol (2012) 4:a009886. doi:10.1101/cshperspect.a009886
-
(2012)
Cold Spring Harb Perspect Biol
, vol.4
-
-
Zoghbi, H.Y.1
Bear, M.F.2
-
19
-
-
84880297402
-
Progress toward treatments for synaptic defects in autism
-
Delorne R, Ely E, Toro R, Leboyer M, Gillberg C, Bourgeron T. Progress toward treatments for synaptic defects in autism. Nat Med (2013) 6:685-94. doi:10.1038/nm.3193
-
(2013)
Nat Med
, vol.6
, pp. 685-694
-
-
Delorne, R.1
Ely, E.2
Toro, R.3
Leboyer, M.4
Gillberg, C.5
Bourgeron, T.6
-
20
-
-
84905825592
-
Genetic aspects of autism spectrum disorders: insight from animal models
-
Banerjee S, Riordan M, Bhat MA. Genetic aspects of autism spectrum disorders: insight from animal models. Front Cell Neurosci (2014) 8:58. doi:10.3389/fncel.2014.00058
-
(2014)
Front Cell Neurosci
, vol.8
, pp. 58
-
-
Banerjee, S.1
Riordan, M.2
Bhat, M.A.3
-
21
-
-
84896718770
-
Neurobiology of autism gene products: towards pathogenesis and drug targets
-
Kleijer KT, Schmeisser MJ, Krueger DD, Boeckers TM, Scheiffele P, Bourgeron T, et al. Neurobiology of autism gene products: towards pathogenesis and drug targets. Psychopharmacology (Berl) (2014) 231:1037-42. doi:10.1007/s00213-013-3403-3
-
(2014)
Psychopharmacology (Berl)
, vol.231
, pp. 1037-1042
-
-
Kleijer, K.T.1
Schmeisser, M.J.2
Krueger, D.D.3
Boeckers, T.M.4
Scheiffele, P.5
Bourgeron, T.6
-
22
-
-
78149431869
-
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
-
Zoghbi HY. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature (2010) 468:263-9. doi:10.1038/nature09582
-
(2010)
Nature
, vol.468
, pp. 263-269
-
-
Zoghbi, H.Y.1
-
23
-
-
79961082953
-
The contribution of GABAergic dysfunction to neurodevelopmental disorders
-
Ramamoorthi K, Lin Y. The contribution of GABAergic dysfunction to neurodevelopmental disorders. Trends Mol Med (2011) 17:452-62. doi:10.1016/j.molmed.2011.03.003
-
(2011)
Trends Mol Med
, vol.17
, pp. 452-462
-
-
Ramamoorthi, K.1
Lin, Y.2
-
24
-
-
80052672692
-
Alterations of GABAergic signaling in autism spectrum disorders
-
Pizzarelli R, Cherubini E. Alterations of GABAergic signaling in autism spectrum disorders. Neural Plast (2011) 2011:297153. doi:10.1155/2011/297153
-
(2011)
Neural Plast
, vol.2011
-
-
Pizzarelli, R.1
Cherubini, E.2
-
25
-
-
84865599035
-
GABA system dysfunction in autism and related disorders: from synapse to symptoms
-
Coghlan S, Horder J, Inkster B, Mendez MA, Murphy DG, Nutt DJ. GABA system dysfunction in autism and related disorders: from synapse to symptoms. Neurosci Biobehav Rev (2012) 36:2044-55. doi:10.1016/j.neubiorev.2012.07.005
-
(2012)
Neurosci Biobehav Rev
, vol.36
, pp. 2044-2055
-
-
Coghlan, S.1
Horder, J.2
Inkster, B.3
Mendez, M.A.4
Murphy, D.G.5
Nutt, D.J.6
-
26
-
-
78149431869
-
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
-
Chao H-T, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, et al. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature (2010) 468:263-9. doi:10.1038/nature09582
-
(2010)
Nature
, vol.468
, pp. 263-269
-
-
Chao, H.-T.1
Chen, H.2
Samaco, R.C.3
Xue, M.4
Chahrour, M.5
Yoo, J.6
-
27
-
-
33846238191
-
Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein
-
Selby L, Zhang C, Sun QQ. Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein. Neurosci Lett (2007) 412:227-32. doi:10.1016/j.neulet.2006.11.062
-
(2007)
Neurosci Lett
, vol.412
, pp. 227-232
-
-
Selby, L.1
Zhang, C.2
Sun, Q.Q.3
-
28
-
-
38049013294
-
Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder
-
DeLorey TM, Sahbaie P, Hashemi E, Homanics GE, Clark JD. Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder. Behav Brain Res (2008) 187:207-20. doi:10.1016/j.bbr.2007.09.009
-
(2008)
Behav Brain Res
, vol.187
, pp. 207-220
-
-
DeLorey, T.M.1
Sahbaie, P.2
Hashemi, E.3
Homanics, G.E.4
Clark, J.D.5
-
29
-
-
0031897162
-
A clinicopathological study of autism
-
Bailey A, Luthert P, Dean A, Harding B, Janota I, Montgomery M, et al. A clinicopathological study of autism. Brain (1998) 121:889-905. doi:10.1093/brain/121.5.889
-
(1998)
Brain
, vol.121
, pp. 889-905
-
-
Bailey, A.1
Luthert, P.2
Dean, A.3
Harding, B.4
Janota, I.5
Montgomery, M.6
-
30
-
-
1942436855
-
Enhanced dizocilpine efficacy in heterozygous reeler mice relates to GABA turnover downregulation
-
Carboni G, Tueting P, Tremolizzo L, Sugaya I, Davis J, Costa E, et al. Enhanced dizocilpine efficacy in heterozygous reeler mice relates to GABA turnover downregulation. Neuropharmacology (2004) 46:1070-81. doi:10.1016/j.neuropharm.2004.02.001
-
(2004)
Neuropharmacology
, vol.46
, pp. 1070-1081
-
-
Carboni, G.1
Tueting, P.2
Tremolizzo, L.3
Sugaya, I.4
Davis, J.5
Costa, E.6
-
31
-
-
10644264473
-
Different presynaptic roles of synapsins at excitatory and inhibitory synapses
-
Gitler D, Takagishi Y, Feng J, Ren Y, Rodriguiz RM, Wetsel WC, et al. Different presynaptic roles of synapsins at excitatory and inhibitory synapses. J Neurosci (2004) 24:11368-80. doi:10.1523/JNEUROSCI.3795-04.2004
-
(2004)
J Neurosci
, vol.24
, pp. 11368-11380
-
-
Gitler, D.1
Takagishi, Y.2
Feng, J.3
Ren, Y.4
Rodriguiz, R.M.5
Wetsel, W.C.6
-
32
-
-
37149056344
-
Lack of synapsin I reduces the readily releasable pool of synaptic vesicles at central inhibitory synapses
-
Baldelli P, Fassio A, Valtorta F, Benfenati F. Lack of synapsin I reduces the readily releasable pool of synaptic vesicles at central inhibitory synapses. J Neurosci (2007) 27:13520-31. doi:10.1523/JNEUROSCI.3151-07.2007
-
(2007)
J Neurosci
, vol.27
, pp. 13520-13531
-
-
Baldelli, P.1
Fassio, A.2
Valtorta, F.3
Benfenati, F.4
-
33
-
-
66549107350
-
Opposite changes in glutamatergic and GABAergic transmission underlie the diffuse hyperexcitability of synapsin I-deficient cortical networks
-
Chiappalone M, Casagrande S, Tedesco M, Valtorta F, Baldelli P, Martinoia S, et al. Opposite changes in glutamatergic and GABAergic transmission underlie the diffuse hyperexcitability of synapsin I-deficient cortical networks. Cereb Cortex (2008) 19:1422-39. doi:10.1093/cercor/bhn182
-
(2008)
Cereb Cortex
, vol.19
, pp. 1422-1439
-
-
Chiappalone, M.1
Casagrande, S.2
Tedesco, M.3
Valtorta, F.4
Baldelli, P.5
Martinoia, S.6
-
34
-
-
84865485582
-
Synaptic and extrasynaptic origin of the excitation/inhibition imbalance in the hippocampus of synapsin I/II/III knockout mice
-
Farisello P, Boido D, Nieus T, Medrihan L, Cesca F, Valtorta F, et al. Synaptic and extrasynaptic origin of the excitation/inhibition imbalance in the hippocampus of synapsin I/II/III knockout mice. Cereb Cortex (2013) 23:581-93. doi:10.1093/cercor/bhs041
-
(2013)
Cereb Cortex
, vol.23
, pp. 581-593
-
-
Farisello, P.1
Boido, D.2
Nieus, T.3
Medrihan, L.4
Cesca, F.5
Valtorta, F.6
-
35
-
-
84872950630
-
Synapsin II desynchronizes neurotransmitter release at inhibitory synapses by interacting with presynaptic calcium channels
-
Medrihan L, Cesca F, Raimondi A, Lignani G, Baldelli P, Benfenati F. Synapsin II desynchronizes neurotransmitter release at inhibitory synapses by interacting with presynaptic calcium channels. Nat Commun (2013) 4:1512. doi:10.1038/ncomms2515
-
(2013)
Nat Commun
, vol.4
, pp. 1512
-
-
Medrihan, L.1
Cesca, F.2
Raimondi, A.3
Lignani, G.4
Baldelli, P.5
Benfenati, F.6
-
36
-
-
77954202334
-
The synapsins: key actors of synapse function and plasticity
-
Cesca F, Baldelli P, Valtorta F, Benfenati F. The synapsins: key actors of synapse function and plasticity. Prog Neurobiol (2010) 91:313-48. doi:10.1016/j.pneurobio.2010.04.006
-
(2010)
Prog Neurobiol
, vol.91
, pp. 313-348
-
-
Cesca, F.1
Baldelli, P.2
Valtorta, F.3
Benfenati, F.4
-
38
-
-
0024461324
-
Synapsins: mosaics of shared and individual domains in a family of synaptic vesicle phosphoproteins
-
Südhof TC, Czernik AJ, Kao H-T, Takei K, Johnston PA, Horiuchi A, et al. Synapsins: mosaics of shared and individual domains in a family of synaptic vesicle phosphoproteins. Science (1989) 245:1474-80. doi:10.1126/science.2506642
-
(1989)
Science
, vol.245
, pp. 1474-1480
-
-
Südhof, T.C.1
Czernik, A.J.2
Kao, H.-T.3
Takei, K.4
Johnston, P.A.5
Horiuchi, A.6
-
39
-
-
0344285992
-
Characterization of transcripts from the synapsin III gene locus
-
Porton B, Kao H-T, Greengard P. Characterization of transcripts from the synapsin III gene locus. J Neurochem (1999) 73:2266-71. doi:10.1046/j.1471-4159.1999.0732266.x
-
(1999)
J Neurochem
, vol.73
, pp. 2266-2271
-
-
Porton, B.1
Kao, H.-T.2
Greengard, P.3
-
40
-
-
80052726517
-
Synapsin III: role in neuronal plasticity and disease
-
Porton B, Wetsel WC, Kao H-T. Synapsin III: role in neuronal plasticity and disease. Semin Cell Dev Biol (2011) 22:416-24. doi:10.1016/j.semcdb.2011.07.007
-
(2011)
Semin Cell Dev Biol
, vol.22
, pp. 416-424
-
-
Porton, B.1
Wetsel, W.C.2
Kao, H.-T.3
-
41
-
-
58149456669
-
Synapsin-dependent development of glutamatergic synaptic vesicles and presynaptic plasticity in postnatal mouse brain
-
Bogen IL, Jensen V, Hvalby O, Walaas SI. Synapsin-dependent development of glutamatergic synaptic vesicles and presynaptic plasticity in postnatal mouse brain. Neuroscience (2009) 158:231-41. doi:10.1016/j.neuroscience.2008.05.055
-
(2009)
Neuroscience
, vol.158
, pp. 231-241
-
-
Bogen, I.L.1
Jensen, V.2
Hvalby, O.3
Walaas, S.I.4
-
42
-
-
0027714924
-
Interactions of synapsin I with phospholipids: possible role in synaptic vesicle clustering and in the maintenance of bilayer structures
-
Benfenati F, Valtorta F, Rossi MC, Onofri F, Sihra T, Greengard P. Interactions of synapsin I with phospholipids: possible role in synaptic vesicle clustering and in the maintenance of bilayer structures. J Cell Biol (1993) 123:1845-55. doi:10.1083/jcb.123.6.1845
-
(1993)
J Cell Biol
, vol.123
, pp. 1845-1855
-
-
Benfenati, F.1
Valtorta, F.2
Rossi, M.C.3
Onofri, F.4
Sihra, T.5
Greengard, P.6
-
43
-
-
0040964284
-
Homo-and heterodimerization of synapsins
-
Hosaka M, Südhof TC. Homo-and heterodimerization of synapsins. J Biol Chem (1999) 274:16747-53. doi:10.1074/jbc.274.24.16747
-
(1999)
J Biol Chem
, vol.274
, pp. 16747-16753
-
-
Hosaka, M.1
Südhof, T.C.2
-
44
-
-
34447550744
-
Synapsin phosphorylation by SRC tyrosine kinase enhances SRC activity in synaptic vesicles
-
Onofri F, Messa M, Matafora V, Bonanno G, Corradi A, Bachi A, et al. Synapsin phosphorylation by SRC tyrosine kinase enhances SRC activity in synaptic vesicles. J Biol Chem (2007) 282:15754-67. doi:10.1074/jbc.M701051200
-
(2007)
J Biol Chem
, vol.282
, pp. 15754-15767
-
-
Onofri, F.1
Messa, M.2
Matafora, V.3
Bonanno, G.4
Corradi, A.5
Bachi, A.6
-
45
-
-
0032481344
-
Synapsin I is structurally similar to ATP-utilizing enzymes
-
Esser L, Wang CR, Hosaka M, Smagula CS, Südhof TC, Deisenhofer J. Synapsin I is structurally similar to ATP-utilizing enzymes. EMBO J (1998) 17:977-84. doi:10.1093/emboj/17.4.977
-
(1998)
EMBO J
, vol.17
, pp. 977-984
-
-
Esser, L.1
Wang, C.R.2
Hosaka, M.3
Smagula, C.S.4
Südhof, T.C.5
Deisenhofer, J.6
-
46
-
-
0034703037
-
Specificity of the binding of synapsin I to SRC homology 3 domains
-
Onofri F, Giovedí S, Kao H-T, Valtorta F, Bongiorno Borbone L, De Camilli P, et al. Specificity of the binding of synapsin I to SRC homology 3 domains. J Biol Chem (2000) 275:29857-67. doi:10.1074/jbc.M006018200
-
(2000)
J Biol Chem
, vol.275
, pp. 29857-29867
-
-
Onofri, F.1
Giovedí, S.2
Kao, H.-T.3
Valtorta, F.4
Bongiorno Borbone, L.5
De Camilli, P.6
-
47
-
-
6344239286
-
Synapsin is a novel Rab3 effector protein on small synaptic vesicles. I. Functional effects of the Rab3A-synapsin I interaction
-
Giovedí S, Darchen F, Valtorta F, Greengard P, Benfenati F. Synapsin is a novel Rab3 effector protein on small synaptic vesicles. II. Functional effects of the Rab3A-synapsin I interaction. J Biol Chem (2004) 279:43769-79. doi:10.1074/jbc.M404168200
-
(2004)
J Biol Chem
, vol.279
, pp. 43769-43779
-
-
Giovedí, S.1
Darchen, F.2
Valtorta, F.3
Greengard, P.4
Benfenati, F.5
-
48
-
-
0026706939
-
Synaptic vesicle-associated Ca2+/calmodulin-dependent protein kinase II is a binding protein for synapsin I
-
Benfenati F, Valtorta F, Rubenstein JL, Gorelick FS, Greengard P, Czernik AJ. Synaptic vesicle-associated Ca2+/calmodulin-dependent protein kinase II is a binding protein for synapsin I. Nature (1992) 359:417-20. doi:10.1038/359417a0
-
(1992)
Nature
, vol.359
, pp. 417-420
-
-
Benfenati, F.1
Valtorta, F.2
Rubenstein, J.L.3
Gorelick, F.S.4
Greengard, P.5
Czernik, A.J.6
-
49
-
-
84901019188
-
Phosphorylation of synapsin I by cyclin-dependent kinase-5 sets the ratio between the resting and recycling pools of synaptic vesicles at hippocampal synapses
-
Verstegen AM, Tagliatti E, Lignani G, Marte A, Stolero T, Atias M, et al. Phosphorylation of synapsin I by cyclin-dependent kinase-5 sets the ratio between the resting and recycling pools of synaptic vesicles at hippocampal synapses. J Neurosci (2014) 34:7266-80. doi:10.1523/JNEUROSCI.3973-13.2014
-
(2014)
J Neurosci
, vol.34
, pp. 7266-7280
-
-
Verstegen, A.M.1
Tagliatti, E.2
Lignani, G.3
Marte, A.4
Stolero, T.5
Atias, M.6
-
50
-
-
0032057591
-
Two sites of action for synapsin domain E in regulating neurotransmitter release
-
Hilfiker S, Schweizer FE, Kao H-T, Czernik AJ, Greengard P, Augustine GJ. Two sites of action for synapsin domain E in regulating neurotransmitter release. Nat Neurosci (1998) 1:29-35. doi:10.1038/1147
-
(1998)
Nat Neurosci
, vol.1
, pp. 29-35
-
-
Hilfiker, S.1
Schweizer, F.E.2
Kao, H.-T.3
Czernik, A.J.4
Greengard, P.5
Augustine, G.J.6
-
51
-
-
1842681995
-
Molecular determinants of synapsin targeting to presynaptic terminals
-
Gitler D, Xu Y, Kao H-T, Lin D, Lim S, Feng J, et al. Molecular determinants of synapsin targeting to presynaptic terminals. J Neurosci (2004) 224:3711-20. doi:10.1523/JNEUROSCI.5225-03.2004
-
(2004)
J Neurosci
, vol.224
, pp. 3711-3720
-
-
Gitler, D.1
Xu, Y.2
Kao, H.-T.3
Lin, D.4
Lim, S.5
Feng, J.6
-
52
-
-
33751190258
-
The synapsin domain E accelerates the exoendocytotic cycle of synaptic vesicles in cerebellar Purkinje cells
-
Fassio A, Merlo D, Mapelli J, Menegon A, Corradi A, Mete M, et al. The synapsin domain E accelerates the exoendocytotic cycle of synaptic vesicles in cerebellar Purkinje cells. J Cell Sci (2006) 119:4257-68. doi:10.1242/jcs.03194
-
(2006)
J Cell Sci
, vol.119
, pp. 4257-4268
-
-
Fassio, A.1
Merlo, D.2
Mapelli, J.3
Menegon, A.4
Corradi, A.5
Mete, M.6
-
53
-
-
76549124206
-
The highly conserved synapsin domain E mediates synapsin dimerization and phospholipid vesicle clustering
-
Monaldi I, Vassalli M, Bachi A, Giovedí S, Millo E, Valtorta F, et al. The highly conserved synapsin domain E mediates synapsin dimerization and phospholipid vesicle clustering. Biochem J (2010) 426:55-64. doi:10.1042/BJ20090762
-
(2010)
Biochem J
, vol.426
, pp. 55-64
-
-
Monaldi, I.1
Vassalli, M.2
Bachi, A.3
Giovedí, S.4
Millo, E.5
Valtorta, F.6
-
54
-
-
0029022960
-
Impairment of axonal development and of synaptogenesis in hippocampal neurons of synapsin I-deficient mice
-
Chin LS, Li L, Ferreira A, Kosik KS, Greengard P. Impairment of axonal development and of synaptogenesis in hippocampal neurons of synapsin I-deficient mice. Proc Natl Acad Sci U S A (1995) 92:9230-4. doi:10.1073/pnas.92.20.9230
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 9230-9234
-
-
Chin, L.S.1
Li, L.2
Ferreira, A.3
Kosik, K.S.4
Greengard, P.5
-
55
-
-
0034657169
-
Synapsin III: developmental expression, subcellular localization, and role in axon formation
-
Ferreira A, Kao H-T, Feng J, Rapoport M, Greengard P. Synapsin III: developmental expression, subcellular localization, and role in axon formation. J Neurosci (2000) 20:3736-44
-
(2000)
J Neurosci
, vol.20
, pp. 3736-3744
-
-
Ferreira, A.1
Kao, H.-T.2
Feng, J.3
Rapoport, M.4
Greengard, P.5
-
56
-
-
0029059605
-
Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice
-
Li L, Chin LS, Shupliakov O, Brodin L, Sihra TS, Hvalby O, et al. Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice. Proc Natl Acad Sci U S A (1995) 92:9235-9. doi:10.1073/pnas.92.20.9235
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 9235-9239
-
-
Li, L.1
Chin, L.S.2
Shupliakov, O.3
Brodin, L.4
Sihra, T.S.5
Hvalby, O.6
-
57
-
-
0029558545
-
Synapsin I deficiency results in the structural change in the presynaptic terminals in the murine nervous system
-
Takei Y, Harada A, Takeda S, Kobayashi K, Terada S, Noda T, et al. Synapsin I deficiency results in the structural change in the presynaptic terminals in the murine nervous system. J Cell Biol (1995) 131:1789-800. doi:10.1083/jcb.131.6.1789
-
(1995)
J Cell Biol
, vol.131
, pp. 1789-1800
-
-
Takei, Y.1
Harada, A.2
Takeda, S.3
Kobayashi, K.4
Terada, S.5
Noda, T.6
-
58
-
-
0029024135
-
Essential functions of synapsins I and II in synaptic vesicle regulation
-
Rosahl TW, Spillane D, Missler M, Herz J, Selig DK, Wolff JR, et al. Essential functions of synapsins I and II in synaptic vesicle regulation. Nature (1995) 375:488-93. doi:10.1038/375488a0
-
(1995)
Nature
, vol.375
, pp. 488-493
-
-
Rosahl, T.W.1
Spillane, D.2
Missler, M.3
Herz, J.4
Selig, D.K.5
Wolff, J.R.6
-
59
-
-
84873098925
-
Temporal evolution of neurophysiological and behavioral features of synapsin I/II/III triple knock-out mice
-
Cambiaghi M, Cursi M, Monzani E, Benfenati F, Comi G, Minicucci F, et al. Temporal evolution of neurophysiological and behavioral features of synapsin I/II/III triple knock-out mice. Epilepsy Res (2013) 103:153-60. doi:10.1016/j.eplepsyres.2012.07.012
-
(2013)
Epilepsy Res
, vol.103
, pp. 153-160
-
-
Cambiaghi, M.1
Cursi, M.2
Monzani, E.3
Benfenati, F.4
Comi, G.5
Minicucci, F.6
-
60
-
-
84876974787
-
Sensitive and critical periods in the development of handling induced seizures in mice lacking synapsins: differences between synapsin I and synapsin II knockouts
-
Etholm L, Bahonjic E, Heggelund P. Sensitive and critical periods in the development of handling induced seizures in mice lacking synapsins: differences between synapsin I and synapsin II knockouts. Exp Neurol (2013) 247:59-65. doi:10.1016/j.expneurol.2013.03.025
-
(2013)
Exp Neurol
, vol.247
, pp. 59-65
-
-
Etholm, L.1
Bahonjic, E.2
Heggelund, P.3
-
61
-
-
80052741085
-
Synapsins: from synapse to network hyperexcitability and epilepsy
-
Fassio A, Raimondi A, Lignani G, Benfenati F, Baldelli P. Synapsins: from synapse to network hyperexcitability and epilepsy. Semin Cell Dev Biol (2011) 22:408-15. doi:10.1016/j.semcdb.2011.07.005
-
(2011)
Semin Cell Dev Biol
, vol.22
, pp. 408-415
-
-
Fassio, A.1
Raimondi, A.2
Lignani, G.3
Benfenati, F.4
Baldelli, P.5
-
62
-
-
0036617908
-
Regulation of neurotransmitter release by synapsin III
-
Feng J, Chi P, Blanpied TA, Xu Y, Magarinos AM, Ferreira A, et al. Regulation of neurotransmitter release by synapsin III. J Neurosci (2002) 22:4372-80
-
(2002)
J Neurosci
, vol.22
, pp. 4372-4380
-
-
Feng, J.1
Chi, P.2
Blanpied, T.A.3
Xu, Y.4
Magarinos, A.M.5
Ferreira, A.6
-
63
-
-
55049101007
-
Synapsin-I-and synapsin-II-null mice display an increased age-dependent cognitive impairment
-
Corradi A, Zanardi A, Giacomini C, Onofri F, Valtorta F, Zoli M, et al. Synapsin-I-and synapsin-II-null mice display an increased age-dependent cognitive impairment. J Cell Sci (2008) 121:3042-51. doi:10.1242/jcs.035063
-
(2008)
J Cell Sci
, vol.121
, pp. 3042-3051
-
-
Corradi, A.1
Zanardi, A.2
Giacomini, C.3
Onofri, F.4
Valtorta, F.5
Zoli, M.6
-
64
-
-
77950791096
-
Mice lacking synapsin III show abnormalities in explicit memory and conditioned fear
-
Porton B, Rodriguiz RM, Phillips LE, Gilbert JW IV, Feng J, Greengard P, et al. Mice lacking synapsin III show abnormalities in explicit memory and conditioned fear. Genes Brain Behav (2010) 9:257-68. doi:10.1111/j.1601-183X.2009.00555.x
-
(2010)
Genes Brain Behav
, vol.9
, pp. 257-268
-
-
Porton, B.1
Rodriguiz, R.M.2
Phillips, L.E.3
Gilbert, J.W.4
Feng, J.5
Greengard, P.6
-
65
-
-
84880332828
-
Autism-related behavioral abnormalities in synapsin knockout mice
-
Greco B, Managò F, Tucci V, Kao H-T, Valtorta F, Benfenati F. Autism-related behavioral abnormalities in synapsin knockout mice. Behav Brain Res (2013) 251:65-74. doi:10.1016/j.bbr.2012.12.015
-
(2013)
Behav Brain Res
, vol.251
, pp. 65-74
-
-
Greco, B.1
Managò, F.2
Tucci, V.3
Kao, H.-T.4
Valtorta, F.5
Benfenati, F.6
-
66
-
-
1542407037
-
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy
-
Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, et al. Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. J Med Genet (2004) 41:183-6. doi:10.1136/jmg.2003.013680
-
(2004)
J Med Genet
, vol.41
, pp. 183-186
-
-
Garcia, C.C.1
Blair, H.J.2
Seager, M.3
Coulthard, A.4
Tennant, S.5
Buddles, M.6
-
67
-
-
79957456437
-
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
-
Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, et al. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. Hum Mol Genet (2011) 20:2297-307. doi:10.1093/hmg/ddr122
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2297-2307
-
-
Fassio, A.1
Patry, L.2
Congia, S.3
Onofri, F.4
Piton, A.5
Gauthier, J.6
-
68
-
-
84890350967
-
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth
-
Corradi A, Fadda M, Piton A, Patry L, Marte A, Rossi P, et al. SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. Hum Mol Genet (2014) 23:90-103. doi:10.1093/hmg/ddt401
-
(2014)
Hum Mol Genet
, vol.23
, pp. 90-103
-
-
Corradi, A.1
Fadda, M.2
Piton, A.3
Patry, L.4
Marte, A.5
Rossi, P.6
-
69
-
-
84860739976
-
Shank1 deletions in males with autism spectrum disorder
-
Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, et al. Shank1 deletions in males with autism spectrum disorder. Am J Hum Genet (2012) 90:879-87. doi:10.1016/j.ajhg.2012.03.017
-
(2012)
Am J Hum Genet
, vol.90
, pp. 879-887
-
-
Sato, D.1
Lionel, A.C.2
Leblond, C.S.3
Prasad, A.4
Pinto, D.5
Walker, S.6
-
70
-
-
84879275920
-
Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356X mutation in synapsin I
-
Giannandrea M, Guarnieri FC, Gehring NH, Monzani E, Benfenati F, Kulozik AE, et al. Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356X mutation in synapsin I. PLoS One (2013) 8:e67724. doi:10.1371/journal.pone.0067724
-
(2013)
PLoS One
, vol.8
-
-
Giannandrea, M.1
Guarnieri, F.C.2
Gehring, N.H.3
Monzani, E.4
Benfenati, F.5
Kulozik, A.E.6
-
71
-
-
84877893238
-
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity
-
Lignani G, Raimondi A, Ferrea E, Rocchi A, Paonessa F, Cesca F, et al. Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity. Hum Mol Genet (2013) 22:2186-99. doi:10.1093/hmg/ddt071
-
(2013)
Hum Mol Genet
, vol.22
, pp. 2186-2199
-
-
Lignani, G.1
Raimondi, A.2
Ferrea, E.3
Rocchi, A.4
Paonessa, F.5
Cesca, F.6
-
72
-
-
84868121906
-
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
-
Anderson GR, Galfin T, Xu W, Aoto J, Malenka RC, Sudhof TC. Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development. Proc Natl Acad Sci U S A (2012) 109:18120-5. doi:10.1073/pnas.1216398109
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 18120-18125
-
-
Anderson, G.R.1
Galfin, T.2
Xu, W.3
Aoto, J.4
Malenka, R.C.5
Sudhof, T.C.6
-
73
-
-
79959955179
-
Retinitis pigmentosa: genes and disease mechanisms
-
Ferrari S, Di Iorio E, Barbaro V, Ponzin D, Sorrentini FS, Parmeggiani F. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics (2011) 12:238-49. doi:10.2174/138920211795860107
-
(2011)
Curr Genomics
, vol.12
, pp. 238-249
-
-
Ferrari, S.1
Di Iorio, E.2
Barbaro, V.3
Ponzin, D.4
Sorrentini, F.S.5
Parmeggiani, F.6
-
74
-
-
84866736529
-
Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia
-
Lips ES, Cornelisse LN, Toonen RF, Min JL, Hultman CM, International Schizophrenia Consortium X, et al. Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia. Mol Psychiatry (2012) 17:996-1006. doi:10.1038/mp.2011.117
-
(2012)
Mol Psychiatry
, vol.17
, pp. 996-1006
-
-
Lips, E.S.1
Cornelisse, L.N.2
Toonen, R.F.3
Min, J.L.4
Hultman, C.M.5
International Schizophrenia Consortium, X.6
-
75
-
-
76049098158
-
Functional gene group analysis reveals a role for synaptic heterotrimeric G proteins in cognitive ability
-
Ruano D, Abecasis GR, Glaser B, Lips ES, Cornelisse LN, de Jong AP, et al. Functional gene group analysis reveals a role for synaptic heterotrimeric G proteins in cognitive ability. Am J Hum Genet (2010) 12(86):113-25. doi:10.1016/j.ajhg.2009.12.006
-
(2010)
Am J Hum Genet
, vol.12
, Issue.86
, pp. 113-125
-
-
Ruano, D.1
Abecasis, G.R.2
Glaser, B.3
Lips, E.S.4
Cornelisse, L.N.5
de Jong, A.P.6
|