Recombinant Human Synaptojanin-1 (SYNJ1), partial

1. A novel mutation in the C-terminal domain identified in family members with juvenile PD and epilepsy. PMID: 30187305
2. Excess of rare putative functional variants at SYNJ1 in schizophrenia. PMID: 28421333
3. This study identified a novel homozygous missense mutation (c.1376C > G, p.Arg459Pro) in SYNJ1 in an ARJP family from eastern India. PMID: 27496670
4. Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses PMID: 28231468
5. Thus, synaptojanin is essential for macroautophagy within presynaptic terminals, coupling protein turnover with synaptic vesicle cycling and linking presynaptic-specific autophagy defects to Parkinson's disease. PMID: 28331029
6. SYNJ1 deficiency leads to early onset refractory seizures and progressive neurological decline. PMID: 27435091
7. Mutations in SYNJ1 gene do not play a major role in early-onset or familial PD in our population. PMID: 26149920
8. This study demonstrated that SYNJ1 was significantly higher in Down syndrome and correlated with several measures of Abeta. SYNJ1 was higher in down syndrome with Alzheimer disease and significantly higher than SYNJ1 in sporadic Alzheimer disease. PMID: 24927707
9. Studying PD genes as a network regulating synaptic activity could bring insight into understanding the neuropathological processes of PD and help identify new genes at fault in this devastating disorder. PMID: 25302295
10. This is the third reported family with autosomal recessive, early-onset parkinsonism associated with the SYNJ1 p.Arg258Gln mutation. This work contributes to the definition of the genetic and clinical aspects of PARK20. PMID: 24816432
11. the clinical progression of the Italian siblings with SYNJ1-related early-onset atypical parkinsonism seems to present a more severe progression in the early stages PMID: 24532203
12. Our data suggest that the previously reported Arg258Gln mutation in SYNJ1 is not a frequent cause of Parkinson disease PMID: 24609975
13. This review presented that SYNJ1 in recessive forms of juvenile parkinsonism. PMID: 24262182
14. Findings suggest that SYNJ1 mutation is responsible for the early-onset Parkinsonism phenotype probably due to deficiencies in its phosphatase activity and consequent impairment of its synaptic functions. PMID: 23804563
15. Results indicate that SYNJ1 gene is a compelling candidate for Parkinsonism; mutations in the functionally linked protein auxilin cause a similar early-onset phenotype, and other findings implicate endosomal dysfunctions in the pathogenesis. PMID: 23804577
16. a novel mechanism by which reduction of a PI(4,5)P2-degrading enzyme, synj1, improves amyloid-induced neuropathology and behavior deficits through accelerating cellular Abeta clearance. PMID: 24052255
17. Trisomy for SYNJ1 in Down syndrome is functionally linked to the enlargement of early endosomes. PMID: 22511594
18. Synj1 reduction ameliorates AD-associated behavioral and synaptic deficits, providing evidence that Synj1 and, more generally, phosphoinositide metabolism may be promising therapeutic targets PMID: 23115165
19. SYNJ1 gene is linked to bipolar disorder PMID: 15261714
20. Data show that in the presence of SNX9, synaptojanin-1 is able to colocalize with distinct ACK1 containing vesicles. PMID: 16137687

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HGNC: 11503

OMIM: 604297

KEGG: hsa:8867

STRING: 9606.ENSP00000409667

UniGene: Hs.473632