| First Author | Taniguchi JB | Year | 2016 |
| Journal | Hum Mol Genet | Volume | 25 |
| Issue | 20 | Pages | 4432-4447 |
| PubMed ID | 28173122 | Mgi Jnum | J:238653 |
| Mgi Id | MGI:5823318 | Doi | 10.1093/hmg/ddw272 |
| Citation | Taniguchi JB, et al. (2016) RpA1 ameliorates symptoms of mutant ataxin-1 knock-in mice and enhances DNA damage repair. Hum Mol Genet 25(20):4432-4447 |
| abstractText | DNA damage and repair is a critical domain of many neurodegenerative diseases. In this study, we focused on RpA1, a candidate key molecule in polyQ disease pathologies, and tested the therapeutic effect of adeno-associated virus (AAV) vector expressing RpA1 on mutant Ataxin-1 knock-in (Atxn1-KI) mice. We found significant effects on motor functions, normalized DNA damage markers (gammaH2AX and 53BP1), and improved Purkinje cell morphology; effects that lasted for 50 weeks following AAV-RpA1 infection. In addition, we confirmed that AAV-RpA1 indirectly recovered multiple cellular functions such as RNA splicing, transcription and cell cycle as well as abnormal morphology of dendrite and dendritic spine of Purkinje cells in Atxn1-KI mice. All these results suggested a possibility of gene therapy with RpA1 for SCA1. |
