Characterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editing
Mitochondrial diseases are highly complex, debilitating conditions impacting 1 in every 6,000 to 8,000 live births. Investigation of patient variants by generating cellular models is vital to a timely and accurate diagnosis. This thesis demonstrates the first instance of combining prime editing syst...
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| Format: | Thesis |
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Curtin University
2024
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| Online Access: | http://hdl.handle.net/20.500.11937/96637 |
| _version_ | 1848766185446834176 |
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| author | Mantegna, Jessica Lee |
| author_facet | Mantegna, Jessica Lee |
| author_sort | Mantegna, Jessica Lee |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Mitochondrial diseases are highly complex, debilitating conditions impacting 1 in every 6,000 to 8,000 live births. Investigation of patient variants by generating cellular models is vital to a timely and accurate diagnosis. This thesis demonstrates the first instance of combining prime editing systems with engineered pegRNAs into one plasmid for delivery into mammalian cells, identified the first disease-causing variant in PTCD1, and characterised three variants in CRYAB to investigate contribution to mitochondrial disease and dysfunction. |
| first_indexed | 2025-11-14T11:47:08Z |
| format | Thesis |
| id | curtin-20.500.11937-96637 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T11:47:08Z |
| publishDate | 2024 |
| publisher | Curtin University |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-966372024-12-20T07:16:18Z Characterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editing Mantegna, Jessica Lee Mitochondrial diseases are highly complex, debilitating conditions impacting 1 in every 6,000 to 8,000 live births. Investigation of patient variants by generating cellular models is vital to a timely and accurate diagnosis. This thesis demonstrates the first instance of combining prime editing systems with engineered pegRNAs into one plasmid for delivery into mammalian cells, identified the first disease-causing variant in PTCD1, and characterised three variants in CRYAB to investigate contribution to mitochondrial disease and dysfunction. 2024 Thesis http://hdl.handle.net/20.500.11937/96637 Curtin University restricted |
| spellingShingle | Mantegna, Jessica Lee Characterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editing |
| title | Characterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editing |
| title_full | Characterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editing |
| title_fullStr | Characterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editing |
| title_full_unstemmed | Characterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editing |
| title_short | Characterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editing |
| title_sort | characterisation of ptcd1 and cryab variants in rare and mitochondrial disease pathogenesis using gene editing |
| url | http://hdl.handle.net/20.500.11937/96637 |