Show simple item record

dc.contributor.authorReid, Taryn
dc.date.accessioned2020-08-27T16:33:15Z
dc.date.available2020-08-27T16:33:15Z
dc.date.issued2020-08-27T16:33:15Z
dc.identifier.urihttp://hdl.handle.net/10222/79737
dc.description.abstractPhosphatidylcholine and phosphatidylethanolamine are two of the most abundant phospholipids present in eukaryotic cells. In mammalian cells, these are mainly synthesized through the Kennedy pathways. PCYT1A is the gene that codes for the rate-limiting step in the CDP-choline pathway. Three rare inherited diseases have been associated with mutations in this gene. EPT1 is the gene that codes for the final step in the CDP-ethanolamine pathway and new patient-derived mutation has been associated with complex hereditary spastic paraplegia. I sought to better understand how these mutations affect the protein function using yeast as a model organism. Using serial dilution pinning assays, I discovered that some of the mutations in PCYT1A cause altered growth compared to the wild type when exposed to certain cell stressors. By studying the novel patient-derived mutation in EPT1 using metabolic radiolabelling of the CDP-ethanolamine pathway, I determined that this mutation causes a decrease in enzyme activity.en_US
dc.language.isoenen_US
dc.subjectSaccharomyces cerevisiaeen_US
dc.subjectRare diseasesen_US
dc.subjectPCYT1Aen_US
dc.subjectKennedy Pathwayen_US
dc.subjectEPT1en_US
dc.titleDisease-causing Mutations in Human Enzymes of the CDP-Ethanolamine and CDP-Choline Pathways Cause Distinct Growth and Phospholipid Synthesis Phenotypes in Saccharomyces cerevisiaeen_US
dc.date.defence2020-08-17
dc.contributor.departmentDepartment of Pharmacologyen_US
dc.contributor.degreeMaster of Scienceen_US
dc.contributor.external-examinern/aen_US
dc.contributor.graduate-coordinatorDr. Denis Dupréen_US
dc.contributor.thesis-readerDr. George Robertsonen_US
dc.contributor.thesis-readerDr. Eileen Denovan-Wrighten_US
dc.contributor.thesis-supervisorDr. Christopher McMasteren_US
dc.contributor.ethics-approvalNot Applicableen_US
dc.contributor.manuscriptsNot Applicableen_US
dc.contributor.copyright-releaseNot Applicableen_US
 Find Full text

Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record