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SEMINAR: School of Chemistry and Biochemistry Seminar

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Today's date is Monday, October 26, 2020
School of Chemistry and Biochemistry Seminar : Towards Enzyme Enhancement Therapies for Gaucher Disease Other events...
Gaucher disease (GD) is a rare genetic disorder characterized by the accumulation of β-D-glucosylceramide within the lysosomes of the cell. This occurs because of insufficient lysosomal glucocerebrosidase (GBA) activity, which is a direct result of mutations in the encoding gene. Some common GD-causing mutations do not significantly diminish GBA’s catalytic competence in a direct manner, but instead deleteriously affect folding and trafficking of the enzyme. These mutant enzymes have difficulty obtaining and retaining their native fold within the lumen of the endoplasmic reticulum (ER), and so most of the enzyme undergoes ER-associated degradation rather than reaching maturity and being trafficked to the lysosome. Small molecules that bind to and stabilize correctly folded mutant enzyme within the ER may elevate the steady-state concentration of folded enzyme within this organelle and increase the amount of enzyme trafficked to lysosomes, potentially ameliorating the disease. This emerging approach to treating GD is known as enzyme enhancement therapy and requires the development of small molecule ‘pharmacological chaperones’. Efforts to develop such compounds will be detailed in this seminar.
Speaker(s) Dr. Ethan D. Goddard-Borger
Location Bayliss Building Lecture Theatre G33
Contact Iyer Swaminatha <[email protected]> : 4470
Start Wed, 18 Jul 2012 12:00
End Wed, 18 Jul 2012 13:00
Submitted by scbevents <[email protected]>
Last Updated Fri, 13 Jul 2012 15:30
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