Elucidating the Mechanisms That Underlies Genetic Parkinson’s Disease

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.

Author

  • Mandy Radefeldt
  • et al.

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