Scientific Publication 

Elucidating the Mechanisms That Underlies Genetic Parkinson’s Disease

Author(s): Radefeldt, Mandy

Parkinson’s Disease Publication: African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

The mechanisms by which GBA1 mutations cause Parkinson’s Disease (PD) are incompletely understood. Supported by the Michael J Fox Foundation, CENTOGENE generated corresponding insights for an unusual GBA1 mutation that was only recently discovered. The findings were published in collaboration with NIH researchers in Nature Structural & Molecular Biology, a prestigious journal from the Nature Publishing Group.


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