| Gene Symbol | ent-gene-694200ea |
| Carrier frequency | 5-10% of PD patients carry GBA1 mutations |
| Risk increase | 5-20x increased risk depending on mutation severity |
| Age of onset | GBA-PD patients typically present 5-10 years earlier |
| Phenotype | Often associated with more rapid progression, cognitive impairment |
| Small molecule chaperones | Bind to and stabilize mutant GBA, enhancing trafficking to lysosomes |
| Venglustat (GZ161) | Oral GCS inhibitor in development for GBA-PD (Ivy program discontinued) |
| Fluorescent GBA activators | High-throughput screening hits in pre-clinical development |
| Eliglustat (Cerdelga) | FDA-approved for Gaucher disease, being explored for PD |
| Venglustat | GCS inhibitor that reduces substrate load |
| Combination approaches | Chaperone + substrate reduction |
| AAV-GBA1 | Various vectors in pre-clinical development |
| CRISPR-based approaches | Gene editing strategies in research phase |
| Combination with other targets | GBA + other PD genes |
| Taliglucerase alfa (Elelyso) | FDA-approved for Gaucher disease |
| Neuroinflammation modulation | Addressing GBA-related immune dysfunction |
| KG Connections | 4 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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