Alonso-Carriazo Fernández, Ana;
(2022)
Role of ARHGEF18/p114RhoGEF
in retinal degeneration.
Doctoral thesis (Ph.D), UCL (University College London).
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Abstract
ARHGEF18/p114RhoGEF is a Rho-specific guanine nucleotide exchanging factor involved in the regulation of the actin cytoskeleton in epithelial and endothelial cells. Mutations in ARHGEF18 gene have been associated with adult-onset retinal degeneration; however, the retinal cell types and molecular pathways affected are unknown. To identify the retinal cell roles of p114RhoGEF, we are investigating disease-relevant ocular cell types and are applying cell type-specific knockout mouse models. We use human RPE cells carrying two point mutations for p114RhoGEF, animal models of RPE with p114RhoGEF depletion, rod-specific, endothelial-specific knockout and PDGFRa models and assessed visual function and retinal degeneration. Thus, this work reveals p114RhoGEF is expressed by several retinal cell types, and plays different roles in different cell types.
| Type: | Thesis (Doctoral) |
|---|---|
| Qualification: | Ph.D |
| Title: | Role of ARHGEF18/p114RhoGEF in retinal degeneration |
| Language: | English |
| Additional information: | Copyright © The Author 2022. Original content in this thesis is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) Licence (https://creativecommons.org/licenses/by-nc/4.0/). Any third-party copyright material present remains the property of its respective owner(s) and is licensed under its existing terms. Access may initially be restricted at the author’s request. |
| UCL classification: | UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10152055 |
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