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Overview of GBA1 Models

The most common genetic form of Parkinson’s disease (PD) is caused by heterozygous mutations in the GBA1 gene which encodes the lysosomal enzyme GCase, leading to decreased activity and accumulation of the substrates glucosylsphingosine (GlcSph) and glucosylceramide (GlcCer). Patients with GBA1 mutations present as clinically and pathologically similar to idiopathic PD, but with increased cognitive impairment. There are a number of models available that use gene mutations or other means to reduce GCase activity. In this overview document you will find a list of those that are commonly used. Please note, this list is by no means comprehensive.

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