Duivenvoorden, M.M. (2012) Neuroligin 3: Synapsing between Wnt/β-catenin and Autism : The transcriptional regulation of the neuroligin 3 gene via the Wnt/β-catenin signaling pathway. thesis, Medicine.
Full text available on request.Abstract
The Wnt/β-catenin signaling pathway is involved in the normal embryonic development of the central nervous system by regulating cell fate specification, cell proliferation and migration in the brain. Neuroligins, postsynaptic cell adhesion molecules, are found to be involved in the synaptic function. When neuroligins dysfunction, neural networks are disrupted and synapses lose important features. Mistakes in processes regulated by this pathway and by the neuroligins are thought to be the cause of Autism Spectrum Disorders (ASD). This research therefore aimed to find a connection between the gene coding for neuroligin 3 and Wnt/β-catenin signaling. After the molecular and pharmacological stimulation of the pathway an increase was seen in the expression level of neuroligin 3 messengerRNA. However, too few experiments were performed to be able to draw a conclusion regarding the possibility of a connection between the pathway and the neuroligin 3 gene. Even though the existence of a relation between Wnt/β-catenin signaling and the neuroligin 3 gene is uncertain, gene reporter assays pointed out a potential minimal promoter region close to the first exon of the neuroligin 3 gene. Nevertheless, experiments should be repeated to confirm these observations before the conclusion can be drawn that neuroligin 3 is regulated by the Wnt/β-catenin signaling pathway and therefore is part of the pathophysiology of ASDs.
| Item Type: | Thesis (Thesis) |
|---|---|
| Supervisor name: | Faculty supervisor: and Verbeek, Dr. Dineke |
| Supervisor name: | External supervisor: and Ferrari Valentini, Dr. Giancarlo De and Laboratory of Genetics and Signal Transduction and Universidad Andrés Bello and Santiago, Chile |
| Faculty: | Medical Sciences |
| Date Deposited: | 25 Jun 2020 10:51 |
| Last Modified: | 25 Jun 2020 10:51 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/1189 |
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