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Items: 1 to 20 of 103


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, Cadieux-Dion M, Gauthier J, Lapointe L, Mottron L, Valtorta F, Rouleau GA, Fassio A, Benfenati F, Cossette P.

Hum Mol Genet. 2014 Jan 1;23(1):90-103. doi: 10.1093/hmg/ddt401. Epub 2013 Aug 15.


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, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, Mottron L, Valtorta F, Khoa Nguyen D, Rouleau GA, Benfenati F, Cossette P.

Hum Mol Genet. 2011 Jun 15;20(12):2297-307. doi: 10.1093/hmg/ddr122. Epub 2011 Mar 25.


Autism-related behavioral abnormalities in synapsin knockout mice.

Greco B, Managò F, Tucci V, Kao HT, Valtorta F, Benfenati F.

Behav Brain Res. 2013 Aug 15;251:65-74. doi: 10.1016/j.bbr.2012.12.015. Epub 2012 Dec 29.


PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG.

PLoS One. 2013 Dec 3;8(12):e80737. doi: 10.1371/journal.pone.0080737. eCollection 2013.


Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.

Giannandrea M, Guarnieri FC, Gehring NH, Monzani E, Benfenati F, Kulozik AE, Valtorta F.

PLoS One. 2013 Jun 20;8(6):e67724. doi: 10.1371/journal.pone.0067724. Print 2013.


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, Orlando M, Tkatch T, Valtorta F, Cossette P, Baldelli P, Benfenati F.

Hum Mol Genet. 2013 Jun 1;22(11):2186-99. doi: 10.1093/hmg/ddt071. Epub 2013 Feb 12.


The Knockout of Synapsin II in Mice Impairs Social Behavior and Functional Connectivity Generating an ASD-like Phenotype.

Michetti C, Caruso A, Pagani M, Sabbioni M, Medrihan L, David G, Galbusera A, Morini M, Gozzi A, Benfenati F, Scattoni ML.

Cereb Cortex. 2017 Oct 1;27(10):5014-5023. doi: 10.1093/cercor/bhx207.


Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction.

Sowers LP, Loo L, Wu Y, Campbell E, Ulrich JD, Wu S, Paemka L, Wassink T, Meyer K, Bing X, El-Shanti H, Usachev YM, Ueno N, Manak JR, Shepherd AJ, Ferguson PJ, Darbro BW, Richerson GB, Mohapatra DP, Wemmie JA, Bassuk AG.

Mol Psychiatry. 2013 Oct;18(10):1077-89. doi: 10.1038/mp.2013.71. Epub 2013 May 28. Erratum in: Mol Psychiatry. 2014 Jun;19(6):742. Manak, R J [corrected to Manak, J R].


Distinct roles of synapsin I and synapsin II during neuronal development.

Ferreira A, Chin LS, Li L, Lanier LM, Kosik KS, Greengard P.

Mol Med. 1998 Jan;4(1):22-8.


Different presynaptic roles of synapsins at excitatory and inhibitory synapses.

Gitler D, Takagishi Y, Feng J, Ren Y, Rodriguiz RM, Wetsel WC, Greengard P, Augustine GJ.

J Neurosci. 2004 Dec 15;24(50):11368-80.


Lack of synapsin I reduces the readily releasable pool of synaptic vesicles at central inhibitory synapses.

Baldelli P, Fassio A, Valtorta F, Benfenati F.

J Neurosci. 2007 Dec 5;27(49):13520-31.


Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins.

Giovedí S, Corradi A, Fassio A, Benfenati F.

Front Pediatr. 2014 Sep 4;2:94. doi: 10.3389/fped.2014.00094. eCollection 2014. Review.


Regulation of neurotransmitter release by synapsin III.

Feng J, Chi P, Blanpied TA, Xu Y, Magarinos AM, Ferreira A, Takahashi RH, Kao HT, McEwen BS, Ryan TA, Augustine GJ, Greengard P.

J Neurosci. 2002 Jun 1;22(11):4372-80.


Mapping of synapsin II (SYN2) genes to human chromosome 3p and mouse chromosome 6 band F.

Li X, Rosahl TW, Südhof TC, Francke U.

Cytogenet Cell Genet. 1995;71(3):301-5.


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.

Nat Commun. 2013;4:1512. doi: 10.1038/ncomms2515.


SUMOylation of synapsin Ia maintains synaptic vesicle availability and is reduced in an autism mutation.

Tang LT, Craig TJ, Henley JM.

Nat Commun. 2015 Jul 15;6:7728. doi: 10.1038/ncomms8728.


Functional role of ATP binding to synapsin I in synaptic vesicle trafficking and release dynamics.

Orlando M, Lignani G, Maragliano L, Fassio A, Onofri F, Baldelli P, Giovedí S, Benfenati F.

J Neurosci. 2014 Oct 29;34(44):14752-68. doi: 10.1523/JNEUROSCI.1093-14.2014.


A third member of the synapsin gene family.

Kao HT, Porton B, Czernik AJ, Feng J, Yiu G, Häring M, Benfenati F, Greengard P.

Proc Natl Acad Sci U S A. 1998 Apr 14;95(8):4667-72.


Essential functions of synapsins I and II in synaptic vesicle regulation.

Rosahl TW, Spillane D, Missler M, Herz J, Selig DK, Wolff JR, Hammer RE, Malenka RC, Südhof TC.

Nature. 1995 Jun 8;375(6531):488-93.


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