Doctoral Thesis
Characterizing Stargardt disease-causing mutations to identify ABCA4 gene lesions amenable to splice intervention therapeutics
Doctor of Philosophy (PhD), Murdoch University
2021
Abstract
Stargardt disease (STGD1, OMIM: 248200) is an autosomal recessive retinal dystrophy, characterized by bilateral progressive central vision loss and subretinal deposition of lipofuscin-like substances. The wide spectrum of clinical phenotypes, ranging from childhood-onset cone-rod dystrophy to late-onset macular pattern dystrophy-like disease, indicates a more complex genotype-phenotype correlation than previously believed. The association of mutations in the ATP-binding cassette transporter gene, ABCA4, with STGD1 was first reported in two families in 1997. The ABCA4 protein encoded by ABCA4 is predominantly expressed in outer segments of photoreceptors and retinal pigment epithelial (RPE) cells in retina...
Details
- Title
- Characterizing Stargardt disease-causing mutations to identify ABCA4 gene lesions amenable to splice intervention therapeutics
- Authors/Creators
- Di Huang
- Contributors
- Steve Wilton (Supervisor)Sue Fletcher (Supervisor)May Aung-Htut (Supervisor)Fred Chen (Supervisor)Sam McLenachan (Supervisor)
- Awarding Institution
- Murdoch University; Doctor of Philosophy (PhD)
- Identifiers
- 991005543468007891
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics; Food Futures Institute
- Language
- English
- Resource Type
- Doctoral Thesis
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