Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 13 of 13 for “"SHANK3"”.
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Critical window in autism : a study on Shank3
… of ASD by generating and using a novel Shank3 conditional knock-in mouse model. Estimated to contribute to about 1% of all ASD cases, Shank3 is one of the most prominent genes associated with autism. It is a master postsynaptic scaffolding protein that mediates synaptic plasticity and …
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Synapse Dysfunction Induced by Autism Spectrum Disorder Associated Shank3 Mutations
… synapse dysfunction in the pathogenesis of ASD. Shank3 is a postsynaptic scaffolding protein that is essential to regulating both the function and structure of excitatory synapses and Shank3 genetic mutations have been described in people affected with ASD. However, currently little is known …
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Understanding Autism Pathology: Insights from Genetic Mouse Model Manipulation of KCTD13 and SHANK3
… to benefit patients containing KCTD13 deletions. SHANK3 (also known as PROSAP2) functions as a postsynaptic scaffolding protein at excitatory synapses. Mutations and deletions within SHANK3 are known to cause idiopathic autism, Phelan-McDermid (aka 22q13 microdeletion) syndrome, and other …
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The role of Synaptic Genes NRXN1 and SHANK3 in Autism: an induced pluripotent stem cell study
… effect of pre-synaptic NRXN1 and post-synaptic SHANK3 deletions on neuronal morphology and synaptic network activity. The first hypothesis of this thesis is that iNeurons derived by NGN2 forward programming approach would express autism related genes, post synaptic density molecules, synaptic …
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Regulation of synaptic function and plasticity by cyclin-dependent kinase 5
… we identified the postsynaptic density protein Shank3 as a Cdk5 substrate and observed that Cdk5-mediated phosphorylation of Shank3 plays a critical role in maintaining dendritic spine morphology and synaptic plasticity. Our collective results demonstrate a central role for Cdk5 in regulating …
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Development and function of the auditory cortex in a mouse model of autism spectrum disorder
… by defective synaptic proteins, such as the Shank3 protein. Previous studies of the Shank3B-/- mouse model of ASD have shown that mutation of the Shank3 gene can adversely affect synapses. In this study, we used in vivo widefield calcium imaging to determine whether functional differences are …
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Mapping the synapse : synthesis and validation of chemical probes for interrogating PDZ domains
… characterization of probes for the PSD-95 and Shank3 PDZ domains. These probes have been utilized to examine the effects of Shank3 PDZ domain dimerization on ligand binding in vitro, and the quantitative results presented here implicate PDZ domain dimerization as a potential modular control …
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Multiple mice tracking using Microsoft Kinect
… to characterize lowered social activity of the Shank3 knockout mouse, and demonstrate the potential of this system for quantitaive study of mice social behavior.
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Touching Autism Spectrum Disorder: Somatosensory Abnormalities in Shank3b and Cntnap2 Mouse Models
… of a sensory nature. This is the case with the Shank3b-/- and Cntnap2-/- mouse models, strains in which the expression of the gene in question is suppressed. The SHANK3 gene encodes for a crucial protein in the structure of the postsynaptic density of glutamatergic synapses. In humans, …
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Somatostatin Receptor 2 Regulation By C-Terminal Motifs and Pdz Domain Proteins
… We also determined that the expression of SHANK3, a PDZ domain containing protein, could alter the plasma membrane expression of sst2 indicating an important role in sst2 regulation. Overall, our results indicate that sst2 trafficking and regulation depends upon an intact PDZ ligand and …
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The role of IL-17a in the rescue of ASD-like behavioral phenotypes following immune stimulation in a mouse model of neurodevelopmental disorders
… genetically deficient for Cntnap2, Fmr1, and Shank3. We found that activation of the immune system using lipopolysaccharide (LPS) was sufficient to rescue behavioral deficits within the MIA model, but not the monogenic mutant model mice. Behavioral rescue was correlated with reduced …
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Investigation of de-novo copy number variants in patients with Autism Spectrum Disorder in Vietnam
… highest (3%) contribution of deletions involving SHANK3 gene, which could pave the way for future diagnostics focused on this gene alone. These findings provide initial information for building an aCGH screening test for Vietnamese autistic children and identifying the relationship between genetic …