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Investigating the pathophysiological mechanisms linked to 2 membrane proteins: the choline transporter 1 and the kidney anion exchanger 1
DownloadSpring 2023
Many diseases are caused by inherited mutations. Using molecular genetics and other laboratory techniques, they can be studied in vitro and in vivo. Congenital myasthenic syndromes is one example, for which I created an in-vitro model of the heterozygous mutations in the choline transporter...
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Probing the Effects of Pathogenic Mutations on Prion-like Conversion of Superoxide dismutase-1
DownloadSpring 2024
Multiple neurodegenerative diseases feature the accumulation of misfolded proteins in and around neurons. In some cases, misfolding propagates through a prion-like mechanism whereby interactions between misfolded conformers and natively folded conformers induce the latter to convert into the...