Journal
NEURON
Volume 93, Issue 4, Pages 737-746Publisher
CELL PRESS
DOI: 10.1016/j.neuron.2017.01.018
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Funding
- Intramural NIH HHS [Z99 HG999999] Funding Source: Medline
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The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for several Lewy body disorders, and an inverse relationship exists between levels of glucocerebrosidase and oligomeric alpha-synuclein. While the underlying mechanisms are still debated, this complicated association is shedding light on the role of lysosomes in neurodegenerative disorders, demonstrating how insights from a rare disorder can direct research into the pathogenesis and therapy of seemingly unrelated common diseases.
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