| First Author | Zhao YG | Year | 2015 |
| Journal | Autophagy | Volume | 11 |
| Issue | 6 | Pages | 881-90 |
| PubMed ID | 26000824 | Mgi Jnum | J:281235 |
| Mgi Id | MGI:6377957 | Doi | 10.1080/15548627.2015.1047127 |
| Citation | Zhao YG, et al. (2015) The autophagy gene Wdr45/Wipi4 regulates learning and memory function and axonal homeostasis. Autophagy 11(6):881-90 |
| abstractText | WDR45/WIPI4, encoding a WD40 repeat-containing PtdIns(3)P binding protein, is essential for the basal autophagy pathway. Mutations in WDR45 cause the neurodegenerative disease beta-propeller protein-associated neurodegeneration (BPAN), a subtype of NBIA. We generated CNS-specific Wdr45 knockout mice, which exhibit poor motor coordination, greatly impaired learning and memory, and extensive axon swelling with numerous axon spheroids. Autophagic flux is defective and SQSTM1 (sequestosome-1)/p62 and ubiquitin-positive protein aggregates accumulate in neurons and swollen axons. Nes-Wdr45(fl/Y) mice recapitulate some hallmarks of BPAN, including cognitive impairment and defective axonal homeostasis, providing a model for revealing the disease pathogenesis of BPAN and also for investigating the possible role of autophagy in axon maintenance. |
