Recombinant Human Synapsin-1 (SYN1)

1. 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. PMID: 28973667
2. 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. PMID: 27515700
3. Cerebral malaria causes pre-synaptic excitation and eventually activation of synapsin I, leading to increased neurotransmitter release. PMID: 26823711
4. 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. PMID: 26204769
5. 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. PMID: 24088370
6. these findings suggest PRICKLE1 mutations contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles. PMID: 24312498
7. 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. PMID: 23818987
8. Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity. PMID: 23406870
9. The histone modification marks were significantly increased in major depression and this effect was correlated with significant increases in SYN1b gene expression. PMID: 22571925
10. The allelic frequencies of SYN1 are associated with Korean female schizophrenia. PMID: 22807112
11. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. PMID: 21441247
12. the nucleocytoplasmic shuttling of dysbindin-1 regulates synapsin I expression and thus may be involved in the pathogenesis of schizophrenia. PMID: 20921223
13. 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. PMID: 20700059
14. The results showed that synapsin I was significantly decreased in the stratum radiatum of CA1 subfield and the molecular layer of DG in AD patients. PMID: 14673601
15. SYN1 nonsense mutation is the likely cause of epileptic and other phenotypes PMID: 14985377
16. Synapsins and S100A1 interact in nerve terminals where coexpresssed; S100A1 cannot bind SV-associated synapsin I and may function as a cytoplasmic store of monomeric synapsin I; synapsin dimerization and interaction with S100A1 are mutually exclusive PMID: 15147519
17. 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. PMID: 19301426

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HGNC: 11494

OMIM: 300491

KEGG: hsa:6853

STRING: 9606.ENSP00000295987

UniGene: Hs.225936