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Funded Studies

The Role of Lysosomal Proteins in Inherited Parkinson's Disease Associated with Changes in the GBA gene

Study Rationale:
Changes (mutations) in the GBA gene are among the most common and important genetic factors leading to Parkinson's disease (PD). The GBA gene directs the production of the glucocerebrosidase (GCase) protein that works in lysosomes, tiny bubbles inside the cell that serve as cellular waste disposals. Lysosomes are filled with other proteins that work with GCase, but their role in Parkinson's is unknown.

We aimed to examine whether mutations in lysosomal proteins other than GCase affect the risk of developing PD or the activity of GCase.

Study Design:
We will perform a detailed genetic analysis of about 30 lysosomal proteins and examine how mutations in these proteins affect the risk of Parkinson's disease and the activity of GCase. This will be studied in a large group of people with PD and people with REM sleep behavior disorder, which often precedes Parkinson's.

Impact on Diagnosis/Treatment of Parkinson's disease:
Identification of other lysosomal proteins that are linked to the risk of Parkinson's disease or affect the activity of GCase will provide new targets for drug development. It may also help diagnose Parkinson's at an early stage.

Next Steps for Development:
If successful, this study will be followed by studies of the identified proteins in different in vitro models, including stem cells and brain cells donated by people with PD.


  • Ziv Gan-Or, MD, PhD

    Montreal QC Canada

  • Roy Alcalay, MD, MS

    New York, NY United States

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