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This study demonstrated that Synaptojanin, a protein with a known role in synaptic vesicle endocytosis, is phosphorylated at S1029 in vivo by the Minibrain (show DYRK1A Proteins) 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 (show DYRK1A Proteins) 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 (show RCAN1 Proteins) may reduce endocytic defects seen in DS.
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.
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 (show APP Proteins). SYNJ1 was higher in down syndrome with Alzheimer disease and significantly higher than SYNJ1 in sporadic Alzheimer disease.
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.
report showing expression, location and isoforms of Synj1 and Synj2 (show SYNJ2 Proteins) in the small and large intestine and that they might participate in intestinal pathology.
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 (show APP Proteins) clearance.
These results implicate Pak5 (show PAK7 Proteins) in Pacsin1 (show PACSIN1 Proteins)- and Synaptojanin1-mediated synaptic vesicle trafficking.
PI(4,5)P-to-PI4P conversion achieved by Synj1 at sites of high curvature may cooperate with dynamin (show DNM1 Proteins) to achieve membrane fission.
synaptojanin 1 function is needed for the progression of recycling vesicles to the functional synaptic vesicle pool.
PtdIns(4,5)P(2) dyshomeostasis caused by gene dosage imbalance for Synj1 may contribute to brain dysfunction and cognitive disabilities in down syndrome.
Synaptojanin 1 functions in constitutive and triggered internalization of AMPA (show GRIA3 Proteins) receptors.
Synaptojanin-1 is involved phosphatidylinositol metabolism in astrogliogenesis, but not in neurogenesis.
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