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• W1690429709 abstract "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 β-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." @default.
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• W1690429709 date "2015-05-22" @default.
• W1690429709 modified "2023-10-05" @default.
• W1690429709 title "The autophagy gene<i>Wdr45/Wipi4</i>regulates learning and memory function and axonal homeostasis" @default.
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• W1690429709 doi "https://doi.org/10.1080/15548627.2015.1047127" @default.
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