PPND is a major subtype of frontotemporal dementia with parkinsonism related to chromosome 17 (FTDP-17), is a progressive and terminal neurodegenerative disease caused by c.837 T > G mutation in the MAPT gene encoding microtubule-associated protein tau. The Neural stem cells(NSCs) model differentiated from IPS, which has a N279K mutation in MAPT gene, providing an access for drug-screening efforts and future cell-based therapies for PPND.
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Pallido-ponto-nigral Degeneration (PPND) |
| Target Gene | MAPT |
| Gene Function | Encoding protein TAU, promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. |
| Mutation | N279K (c.837 T> G) |
| Phenotype | N279K tau mutation induced an increased ratio of 4-repeat to 3-repeat tau and accumulation of stress granules indicating elevated cellular stress. |
| Source | Fibroblasts |
| Cellular Assays | Immunocytochemistry, Western blotting, RT-PCR |
For Research Use Only. Not For Clinical Use.
