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NIH Research Festival

September 14 – 16, 2016

iPSC-derived dopaminergic neurons for exploring the pathophysiology of GBA1-associated Parkinson disease and for testing new therapies

Thursday, September 15, 2016 – Poster Session III
3:30 – 5:00 p.m.

FAES Terrace

NHGRI

NEURO-2

Authors

  • BT McMahon
  • E Aflaki
  • EA Sidransky

Abstract

Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase mutated in the lysosomal disorder Gaucher disease (GD), are the most common genetic risk factor for Parkinson disease (PD). The establishment of these associations has prompted an effort to further elucidate the role of GBA1 mutations in PD pathophysiology through the examination of patient-derived dopaminergic neurons. Additionally, while astrocytes provide critical support for neuronal function, the role of these particular glial cells in PD pathways has not been adequately explicated. We used patient-derived induced pluripotent stem cells (iPSCs) to generate macrophages and neurons, in order to study the impact of GBA1 mutations on the development of parkinsonism and to evaluate new therapeutic strategies.

Scientific Focus Area: Neuroscience

This page was last updated on Friday, March 26, 2021

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Current Research Festival

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    • General Schedule of Events
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    • NIH Early–Career Investigator Lectures
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