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Rat (Rattus) Polyclonal SYNJ1 Primary Antibody for ICC, WB - ABIN1742316
Park, Kim, Lee, Park, Park, Sun, Kim, Chang: SNX18 shares a redundant role with SNX9 and modulates endocytic trafficking at the plasma membrane. in Journal of cell science 2010
Show all 7 Pubmed References
Human Polyclonal SYNJ1 Primary Antibody for ICC, IF - ABIN4357185
Zhu, Zhong, Elder, Sano, Holtzman, Gandy, Cardozo, Haroutunian, Robakis, Cai: Phospholipid dysregulation contributes to ApoE4-associated cognitive deficits in Alzheimer's disease pathogenesis. in Proceedings of the National Academy of Sciences of the United States of America 2015
Show all 3 Pubmed References
Cow (Bovine) Polyclonal SYNJ1 Primary Antibody for WB - ABIN2778875
Thole, Vermeer, Zhang, Gadella, Nielsen: Root hair defective4 encodes a phosphatidylinositol-4-phosphate phosphatase required for proper root hair development in Arabidopsis thaliana. in The Plant cell 2008
This study demonstrated that Synaptojanin, a protein with a known role in synaptic vesicle endocytosis, is phosphorylated at S1029 in vivo by the Minibrain kinase. We further demonstrate that the phosphorylation status of Synaptojanin at S1029 differentially regulates its participation in the recycling of distinct synaptic vesicle pools.
Mnb is a synaptic kinase that promotes efficient synaptic vesicle recycling by Synj function at the neuromuscular junction.
Findings imply that restoring the level of any one of these genes dap160/itsn1, synj/synj1, and nla/dscr1 may reduce endocytic defects seen in DS.
Synjanin is mislocalized and destabilized at synapses devoid of Endophilin, suggesting that Endophilin recruits and stabilizes Synjanin on newly formed vesicles to promote vesicle uncoating.
In the absence of synaptojanin or endophilin, vesicles undergo full fusion and re-formation.
A specific role for SynJ1 in autophagosomal and endosomal trafficking is described and evidence that PI(4,5)P2 participates in autophagy in cone photoreceptors is provided.
Synaptojanin 1 is required for endolysosomal trafficking of synaptic proteins in cone photoreceptor inner segments.
This protein localized predominantly to cone photoreceptors. Using blastula stage transplantation experiments, study demonstrates that rods from mutants lacking SynJ1 develop normally and do not have the pronounced morphological defects detected in cones
Synj1 is required for anchoring of ribbons, for vesicle maintenance, and for synaptic transmission at cone photoreceptor ribbon synapses.
Synj1 is critical for retrieval of membrane in order to maintain the quantity, timing of fusion, and spontaneous release properties of synaptic vesicles at hair-cell ribbon synapses.
A novel mutation in the C-terminal domain identified in family members with juvenile PD and epilepsy.
Excess of rare putative functional variants at SYNJ1 in schizophrenia.
This study identified a novel homozygous missense mutation (c.1376C > G, p.Arg459Pro) in SYNJ1 in an ARJP family from eastern India.
Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses
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.
SYNJ1 deficiency leads to early onset refractory seizures and progressive neurological decline.
Mutations in SYNJ1 gene do not play a major role in early-onset or familial PD in our population.
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.
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.
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.
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
Our data suggest that the previously reported Arg258Gln mutation in SYNJ1 is not a frequent cause of Parkinson disease
This review presented that SYNJ1 in recessive forms of juvenile parkinsonism.
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.
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.
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.
Trisomy for SYNJ1 in Down syndrome is functionally linked to the enlargement of early endosomes.
Synj1 reduction ameliorates AD-associated behavioral and synaptic deficits, providing evidence that Synj1 and, more generally, phosphoinositide metabolism may be promising therapeutic targets
SYNJ1 gene is linked to bipolar disorder
Data show that in the presence of SNX9, synaptojanin-1 is able to colocalize with distinct ACK1 containing vesicles.
Study concludes that the bSYNJ1_C3981T SNP can be ruled out as a functional mutation for polledness in German Holstein, Limousin, Charolais and Pinzgauer cattle.
This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene.
, no optokinetic response c
, synaptojanin 1
, synaptojanin 1, isoform 1
, synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
, synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1
, inositol 5'-phosphatase (synaptojanin 1)
, synaptojanin-1, polyphosphoinositide phosphatase