| Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients. | Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.
Xiong J, Duan H, Chen S, Kessi M, He F, Deng X, Zhang C, Yang L, Peng J, Yin F., Free PMC Article | 07/25/2024 |
| Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate. | Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate.
Leuschner UV, Kleinle S, Holzinger A, Neef J. | 05/12/2023 |
| An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD. | An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.
Bauer CS, Cohen RN, Sironi F, Livesey MR, Gillingwater TH, Highley JR, Fillingham DJ, Coldicott I, Smith EF, Gibson YB, Webster CP, Grierson AJ, Bendotti C, De Vos KJ., Free PMC Article | 08/27/2022 |
| Synapsin Condensates Recruit alpha-Synuclein. | Synapsin Condensates Recruit alpha-Synuclein.
Hoffmann C, Sansevrino R, Morabito G, Logan C, Vabulas RM, Ulusoy A, Ganzella M, Milovanovic D. | 08/21/2021 |
| Cooperative function of synaptophysin and synapsin in the generation of synaptic vesicle-like clusters in non-neuronal cells. | Cooperative function of synaptophysin and synapsin in the generation of synaptic vesicle-like clusters in non-neuronal cells.
Park D, Wu Y, Lee SE, Kim G, Jeong S, Milovanovic D, De Camilli P, Chang S., Free PMC Article | 01/23/2021 |
| Semaphorin 3A controls enteric neuron connectivity and is inversely associated with synapsin 1 expression in Hirschsprung disease. | Semaphorin 3A controls enteric neuron connectivity and is inversely associated with synapsin 1 expression in Hirschsprung disease.
Gonzales J, Le Berre-Scoul C, Dariel A, Bréhéret P, Neunlist M, Boudin H., Free PMC Article | 12/19/2020 |
| Autoantibodies to synapsin I sequestrate synapsin I and alter synaptic function. | Autoantibodies to synapsin I sequestrate synapsin I and alter synaptic function.
Rocchi A, Sacchetti S, De Fusco A, Giovedi S, Parisi B, Cesca F, Höltje M, Ruprecht K, Ahnert-Hilger G, Benfenati F., Free PMC Article | 08/29/2020 |
| A surface-based group study using novel diffusion and quantitative multiparametric imaging on 13 SYN1Q555X mutation carriers and 13 age- and sex-matched controls. Results showed significant microstructural alterations in several regions usually involved in oral and written language as well as dyslexia. The most significant changes in these regions were lowered mean diffusivity and increased fractional anisotropy. | Effects of SYN1(Q555X) mutation on cortical gray matter microstructure.
Cabana JF, Gilbert G, Létourneau-Guillon L, Safi D, Rouleau I, Cossette P, Nguyen DK., Free PMC Article | 05/25/2019 |
| Authors identified the c.236 C > G/p.S79W mutation in SYN1 as causative for the non-syndromic ID of the MRX50 family. Accordingly, the in vitro characterization of S79W SynI clearly indicates that the mutation does not interfere with neurodevelopmental aspects, but perturbs spontaneous SV exocytosis, SV clustering and SV lateral mobility along axons. | A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.
Guarnieri FC, Pozzi D, Raimondi A, Fesce R, Valente MM, Delvecchio VS, Van Esch H, Matteoli M, Benfenati F, D'Adamo P, Valtorta F. | 05/26/2018 |
| These findings contribute to previous work showing dysregulation of Synapsins, particularly SYN2, in mood disorders and improve our understanding of the regulatory mechanisms that precipitate these changes likely leading to the BD or MDD phenotype. | DNA hypomethylation of Synapsin II CpG islands associates with increased gene expression in bipolar disorder and major depression.
Cruceanu C, Kutsarova E, Chen ES, Checknita DR, Nagy C, Lopez JP, Alda M, Rouleau GA, Turecki G., Free PMC Article | 06/10/2017 |
| Cerebral malaria causes pre-synaptic excitation and eventually activation of synapsin I, leading to increased neurotransmitter release. | Increased synapsin I expression in cerebral malaria.
Thonsranoi K, Glaharn S, Punsawad C, Chaisri U, Krudsood S, Viriyavejakul P., Free PMC Article | 11/5/2016 |
| Patterns of the immunoreactivity with antibodies to SNAP-25, synapsin-I and synaptophysin are completely appropriate to those of adult's OB on the 38-40 weeks of the prenatal development. | [Development of the Human Olfactory Bulbs in the Prenatal Ontogenesis: an Immunochistochemical Study with Markers of Presynaptic Terminals (anti-SNAP-25, -Synapsin-I, -Synaptophysin)].
Kharlamova AS, Barabanov VM, Saveliev SV. | 08/15/2015 |
| The implementation of the AlphaScreen pSYN1 assay and future development of additional primary neuronal HTS assays provides an attractive approach for discovery of novel classes of therapeutic candidates for a variety of CNS disorders. | Development of a high-throughput AlphaScreen assay for modulators of synapsin I phosphorylation in primary neurons.
Chan B, Cottrell JR, Li B, Larson KC, Ashford CJ, Levenson JM, Laeng P, Gerber DJ, Song J. | 09/6/2014 |
| these findings suggest PRICKLE1 mutations contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles. | 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., Free PMC Article | 08/23/2014 |
| Data indicate that in patients carrying the W356x mutation the function of synapsin I is markedly impaired, and support the value of Syn1(-/-) mice as an experimental model mimicking the human pathology. | 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., Free PMC Article | 02/1/2014 |
| Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity. | 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., Free PMC Article | 01/4/2014 |
| The histone modification marks were significantly increased in major depression and this effect was correlated with significant increases in SYN1b gene expression. | H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression.
Cruceanu C, Alda M, Nagy C, Freemantle E, Rouleau GA, Turecki G., Free PMC Article | 08/31/2013 |
| A conserved region of human and mouse SYN1 promoters contains cis-sites for the transcriptional activator Sp1 in close proximity to REST binding motifs. | Specificity protein 1 (Sp1)-dependent activation of the synapsin I gene (SYN1) is modulated by RE1-silencing transcription factor (REST) and 5'-cytosine-phosphoguanine (CpG) methylation.
Paonessa F, Latifi S, Scarongella H, Cesca F, Benfenati F., Free PMC Article | 03/30/2013 |
| The allelic frequencies of SYN1 are associated with Korean female schizophrenia. | The C allele of synonymous SNP (rs1142636, Asn170Asn) in SYN1 is a risk factor for the susceptibility of Korean female schizophrenia.
Yu GI, Kim SK, Park HJ, Kim JW, Chung JH, Shin DH. | 01/12/2013 |
| SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. | 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. | 09/17/2011 |
| the nucleocytoplasmic shuttling of dysbindin-1 regulates synapsin I expression and thus may be involved in the pathogenesis of schizophrenia. | Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression.
Fei E, Ma X, Zhu C, Xue T, Yan J, Xu Y, Zhou J, Wang G., Free PMC Article | 01/1/2011 |
| The authors propose claudin-2 and SYN1 work in concert to enhance microbial translocation across the intestinal epithelial barrier to contribute to chronic immune activation and CD4 T-cell depletion in HIV-1-infected patients. | A role for syndecan-1 and claudin-2 in microbial translocation during HIV-1 infection.
Smith AJ, Schacker TW, Reilly CS, Haase AT., Free PMC Article | 11/6/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| This study concluded that the human synapsin I gene is positively regulated by nuclear respiratory factor 1 and mediates the function of nuclear respiratory factor 1 in neurite outgrowth. | Human synapsin I mediates the function of nuclear respiratory factor 1 in neurite outgrowth in neuroblastoma IMR-32 cells.
Wang JL, Chang WT, Tong CW, Kohno K, Huang AM. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group. | 01/11/2009 |