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dc.contributor.authorStuart, Ryan Patrick
dc.date.accessioned2014-04-15T04:30:24Z
dc.date.available2014-04-15T04:30:24Z
dc.date.issued2013-08
dc.identifier.otherstuart_ryan_p_201308_ms
dc.identifier.urihttp://purl.galileo.usg.edu/uga_etd/stuart_ryan_p_201308_ms
dc.identifier.urihttp://hdl.handle.net/10724/29661
dc.description.abstractProtein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase1 (POMGnT1) is an influential glycosyltransferase required for modifying α-dystroglycan. Mutations in POMGnT1, removing GlcNAc modifications, have been associated with muscle-eye-brain (MEB) disease, a congenital muscular dystrophy. There are a number of varying phenotypes associated with MEB disease, corresponding to different point mutations in POMGnT1. In this study specific point mutations of POMGnT1 were selected to be examined, such that phenotype-genotype relationship can begin to be established. Using mass spectrometry and radiolabeled UDP-GlcNAc we were able to confirm that rPOMGnT1 was catalytically active. Through our analysis, we were able to compare the maximum initial velocity of the mutants as well as their thermal stability. Additionally, through homology modeling, predicted changes in tertiary structures could be associated with a loss of function. This data suggest that there could be a correlation between POMGnT1 expression and efficiency and disease phenotype.
dc.languageeng
dc.publisheruga
dc.rightspublic
dc.subjectPOMGnT1
dc.subjectpost-translational modifications
dc.subjectα-DG
dc.subjectcongenital muscular dystrophy
dc.titleEstablishing genotype-phenotype relationships in POMGnT1 associated with congenital muscular dystrophy
dc.typeThesis
dc.description.degreeMS
dc.description.departmentBiochemistry and Molecular Biology
dc.description.majorBiochemistry and Molecular Biology
dc.description.advisorLance Wells
dc.description.committeeLance Wells
dc.description.committeeMichael Tiemeyer
dc.description.committeeMichael Pierce
dc.description.committeeKelley Moremen


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