Tauopathies represent a group of neurodegenerative disorders characterized by the accumulation of pathological TAU protein in brains. The fibroblasts from patient has a A152T mutation in MAPT gene is induced into IPS and then differerntiated into neurons, will provide a platform for drug-screening efforts and future cell-based therapies for Tauopathies.
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Tauopathies |
| 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 | A152T |
| Phenotype | Increased TAU fragmentation and phosphorylation, leading to neurodegeneration and especially axonal degeneration. |
| Source | Fibroblasts |
| Cellular Assays | Immunocytochemistry, Western blot |
For Research Use Only. Not For Clinical Use.
