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ProteomicsSynGAP variant from Japanese ALS cohort alters the recruitment of RNA binding proteins
FUS is one of the pathogenic RNA-binding proteins for amyotrophic lateral sclerosis (ALS). We previously reported that FUS stabilized SynGAP mRNA at its 3’UTR and maintained spine maturation and cognitive function in mice. To elucidate whether this mechanism could be pathogenic for ALS, we identifie...
ORGANISM(S): Homo sapiens (Human) 
2023-03-11 | PXD026586 | Pride
Ipsc Motor neuron Als Fus Syngap 
ProteomicsLoss of Necdin causes social deficit and aberrant synaptic function through destabilization of SynGAP
The Ras GTPase-activating protein SynGAP interacts with PSD95 to regulate synaptic morphology and function at the postsynaptic density in neurons. Haploinsufficiency of SYNGAP1 has been linked to autism spectrum disorders (ASD) and intellectual disability (ID). While transcriptional and translationa...
ORGANISM(S): Mus Musculus 
2025-05-17 | PXD064040 |
UnknownSynGAP isoforms differentially regulate synaptic plasticity and dendritic development.
Not available
S-EPMC7314543 | biostudies-literature
UnknownSYNGAP-1 Mutation And Catatonia: A Case Series and Systematic Review.
Not available
S-EPMC11807908 | biostudies-literature
UnknownSynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons.
Not available
S-EPMC1450173 | biostudies-literature
UnknownAnchoring high concentrations of SynGAP at postsynaptic densities via liquid-liquid phase separation.
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S-EPMC6548289 | biostudies-literature
UnknownSynGAP regulates synaptic plasticity and cognition independently of its catalytic activity.
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S-EPMC11188940 | biostudies-literature
UnknownSynGAP splice variants display heterogeneous spatio-temporal expression and subcellular distribution in the developing mammalian brain.
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S-EPMC7754318 | biostudies-literature
UnknownSynGAP: a synteny-based toolkit for gene structure annotation polishing.
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S-EPMC11323386 | biostudies-literature
UnknownSynGAP isoforms exert opposing effects on synaptic strength.
Not available
S-EPMC3621422 | biostudies-literature
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