The different clinical facets of
SYN1
autism spectrum disorders
genotype-phenotype correlation
neurodevelopmental disorders
reflex epilepsy
synapsins
Journal
Frontiers in cell and developmental biology
ISSN: 2296-634X
Titre abrégé: Front Cell Dev Biol
Pays: Switzerland
ID NLM: 101630250
Informations de publication
Date de publication:
2022
2022
Historique:
received:
15
08
2022
accepted:
20
10
2022
entrez:
26
12
2022
pubmed:
27
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic
Identifiants
pubmed: 36568968
doi: 10.3389/fcell.2022.1019715
pii: 1019715
pmc: PMC9773998
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1019715Informations de copyright
Copyright © 2022 Parenti, Leitão, Kuechler, Villard, Goizet, Courdier, Bayat, Rossi, Julia, Bruel, Tran Mau-Them, Nambot, Lehalle, Willems, Lespinasse, Ghoumid, Caumes, Smol, El Chehadeh, Schaefer, Abi-Warde, Keren, Afenjar, Tabet, Levy, Maruani, Aledo-Serrano, Garming, Milleret-Pignot, Chassevent, Koopmans, Verbeek, Person, Belles, Bellus, Salbert, Kaiser, Mazzola, Convers, Perrin, Piton, Wiegand, Accogli, Brancati, Benfenati, Chatron, Lewis-Smith, Thomas, Zara, Striano, Lesca and Depienne.
Déclaration de conflit d'intérêts
Author RP was employed by GeneDx. RT reports Honoraria from Arvelle/Angelini, Bial, Eisai, GW Pharma/Jazz, Sanofi, UCB Pharma and Zogenix, and unrestricted funding support from Arvelle/Angelini and UNEEG. PS has served on a scientific advisory board for the Italian Agency of the Drug (AIFA); has received honoraria from GW pharma, Kolfarma s.r.l., Proveca Pharma Ltd, and Eisai Inc.; and has received research support from the Italian Ministry of Health (Ricerca Corrente 2022) and Fondazione San Paolo. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
BMC Med Genomics. 2021 Jul 9;14(1):182
pubmed: 34243774
J Neurosci. 2004 Dec 15;24(50):11368-80
pubmed: 15601943
Epilepsia. 2015 Jul;56(7):1098-108
pubmed: 26096837
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Epilepsy Res. 2012 May;99(3):252-9
pubmed: 22236379
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894
pubmed: 30371827
J Med Genet. 2010 Jun;47(6):404-10
pubmed: 20522430
Front Neurosci. 2019 Nov 08;13:1135
pubmed: 31780880
J Cell Sci. 2008 Sep 15;121(Pt 18):3042-51
pubmed: 18713831
Proc Natl Acad Sci U S A. 1979 Nov;76(11):5977-81
pubmed: 392511
Epilepsy Res. 2013 Feb;103(2-3):153-60
pubmed: 22846639
Hum Mol Genet. 2013 Jun 1;22(11):2186-99
pubmed: 23406870
Mol Syst Biol. 2011 Oct 11;7:539
pubmed: 21988835
J Biol Chem. 1998 Jan 16;273(3):1425-9
pubmed: 9430678
Genome Med. 2021 Mar 17;13(1):40
pubmed: 33726816
Neurology. 2021 Aug 10;97(6):e577-e586
pubmed: 34078716
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Hum Mutat. 2016 Jun;37(6):564-9
pubmed: 26931183
Protein Sci. 2021 Jan;30(1):60-69
pubmed: 32881105
Hum Mol Genet. 2014 Jan 1;23(1):90-103
pubmed: 23956174
Pediatr Neurol. 2017 Dec;77:61-66
pubmed: 29056246
Clin Genet. 2021 Dec;100(6):766-770
pubmed: 34490615
Epilepsia. 2018 Nov;59(11):2162-2163
pubmed: 30390306
J Cell Biol. 1983 May;96(5):1337-54
pubmed: 6404910
Biol Sex Differ. 2015 Dec 30;6:35
pubmed: 26719789
Transl Psychiatry. 2021 Feb 1;11(1):84
pubmed: 33526774
Sci Rep. 2020 Jan 22;10(1):968
pubmed: 31969655
Science. 1989 Sep 29;245(4925):1474-80
pubmed: 2506642
Front Neurol. 2021 Sep 20;12:736977
pubmed: 34616357
PLoS One. 2013 Jun 20;8(6):e67724
pubmed: 23818987
Epilepsia. 2017 Apr;58(4):522-530
pubmed: 28276060
Cell. 2019 Jan 24;176(3):535-548.e24
pubmed: 30661751
Behav Brain Res. 2013 Aug 15;251:65-74
pubmed: 23280234
Epilepsy Behav. 2009 Apr;14(4):582-90
pubmed: 19236947
Prog Neurobiol. 2010 Aug;91(4):313-48
pubmed: 20438797
Hum Mol Genet. 2017 Dec 1;26(23):4699-4714
pubmed: 28973667
Nat Commun. 2018 Dec 10;9(1):5269
pubmed: 30531953
Genome Biol. 2016 Nov 24;17(1):235
pubmed: 27884173
Hum Brain Mapp. 2018 Aug;39(8):3428-3448
pubmed: 29671924
J Cell Sci. 2006 Oct 15;119(Pt 20):4257-68
pubmed: 17038543
J Neurochem. 2021 Apr;157(2):208-228
pubmed: 32738165
Nature. 1995 Jun 8;375(6531):488-93
pubmed: 7777057
Genome Med. 2017 Mar 21;9(1):26
pubmed: 28327206
Nat Neurosci. 2003 Feb;6(2):127-35
pubmed: 12536209
J Neurochem. 1999 Dec;73(6):2266-71
pubmed: 10582583
Lancet Neurol. 2007 Nov;6(11):970-80
pubmed: 17913586
Hum Mutat. 2015 Oct;36(10):928-30
pubmed: 26220891
Neurosci Biobehav Rev. 2021 Nov;130:33-60
pubmed: 34407457
Hum Mol Genet. 2011 Jun 15;20(12):2297-307
pubmed: 21441247
Nucleic Acids Res. 2021 Jan 8;49(D1):D480-D489
pubmed: 33237286
Pediatr Neurol. 2017 May;70:34-43.e2
pubmed: 28330790
Front Genet. 2021 Mar 05;12:669107
pubmed: 33747056
Genes (Basel). 2020 Jan 02;11(1):
pubmed: 31906484
Cereb Cortex. 2017 Oct 1;27(10):5014-5023
pubmed: 28922833
Nucleic Acids Res. 2010 Jul;38(Web Server issue):W695-9
pubmed: 20439314
Epilepsia. 2014 Apr;55(4):475-82
pubmed: 24730690
J Neurosci. 2002 Jun 1;22(11):4372-80
pubmed: 12040043
J Biol Chem. 1977 Jul 25;252(14):5155-63
pubmed: 194903
Eur J Hum Genet. 2019 Aug;27(8):1197-1214
pubmed: 31019283
Am J Hum Genet. 2019 Dec 5;105(6):1274-1285
pubmed: 31785789
Epilepsia. 2018 May;59(5):1062-1071
pubmed: 29655203
J Med Genet. 2004 Mar;41(3):183-6
pubmed: 14985377
Bioinformatics. 2014 Feb 01;30(3):335-42
pubmed: 24281696