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dc.contributor.authorMantegna, Jessica Lee
dc.contributor.supervisorOliver Rackhamen_US
dc.contributor.supervisorRichard Leeen_US
dc.date.accessioned2024-12-20T07:16:18Z
dc.date.available2024-12-20T07:16:18Z
dc.date.issued2024en_US
dc.identifier.urihttp://hdl.handle.net/20.500.11937/96637
dc.description.abstract

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.

en_US
dc.publisherCurtin Universityen_US
dc.titleCharacterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editingen_US
dc.typeThesisen_US
dcterms.educationLevelPhDen_US
curtin.departmentCurtin Medical Schoolen_US
curtin.accessStatusFulltext not availableen_US
curtin.facultyHealth Sciencesen_US
curtin.contributor.orcidMantegna, Jessica Lee [0000-0002-4647-619X]en_US
dc.date.embargoEnd2026-12-18


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