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Event Type:  Seminar (This is an NIH Science event)
Title:  Non-Inhibitory Pharmacological Chaperones of Glucocerebrosidase for the Treatment of Gaucher’s and Parkinson’s Disorders
Description:  Abstract

Protein folding is a thermodynamically-driven process by which newly synthesized polypeptides acquire their minimum energy conformation. In many cases, the process is kinetically slow, requiring the binding of specific protein chaperones that catalyze the folding process by recognizing specific sequences and conformers. In the ER, properly folded proteins are incorporated into vesicles toward the Golgi apparatus, where they are post-transcriptionally modified, sorted and eventually distributed to specific membranes. Mutant proteins with diminished recognition by protein chaperones tend to accumulate in the ER and are eventually tagged for proteolysis, reducing the levels of protein at the intended site of action. Gaucher’s disease, the most common of the lipidosis disorders, is a recessive disorder caused by mutations in the lysosomal enzyme glucocerebrosidase (GCase). In addition, several clinical association studies have shown a clear link between GCase mutants and the development of Parkinson’s disease. Our group has identified and studied the biological effects of two series of non-inhibitory small molecule chaperones able to promote folding of GCase and increase its levels in the lysosome. Treatment with our molecules reduces the accumulation of glucosylceramide in Gaucher’s macrophages and iPSC-derived neurons. Our molecules are also able to reduce accumulated alpha synuclein in phenotypic dopaminergic Parkinson’s neurons carrying wild type and mutant GCase. These results open the door to development of a new class of molecules for the treatment of Gaucher’s and Parkinson’s disorders.

Dr. Juan Marugan holds a group leader position at the National Center for Advancing Translation Sciences.
Series Name:  Proteostasis SIG seminar series
Videocast:  Event will not be videocast
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of Research Services (ORS) Interpreting Service Requests web page.

Thursday, July 05, 2018   12:00pm - 1:00pm Add To Outlook Calendar     Add To iCal Calendar     Add To Entourage Calendar
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Name:   Juan Jose Marugan
Title:   Ph.D.
Organization:   NCATS, NIH
City/Province:   Rockville
State:   Maryland
Country:   United States

Organization(s):  Proteostasis SIG

Location:  On the main NIH Campus
Building:  Building 35A
Room:  Room 610
Street Address:  35 Convent Dr
City:  Bethesda
State:  Maryland
Zip Code:  20892

Name:   Andras Orosz
Phone:   301-443-2193
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