Article

A <i>dwdr45</i> knock-out <i>Drosophila</i> model to decipher the role of autophagy in BPAN

2025-02-08

Abstract excerpt

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurological disorder characterized by severe cognitive and motor impairments. BPAN is caused by de novo pathogenic variants in the WDR45 gene on the X chromosome. WDR45 gene encodes the protein WDR45/WIPI4, a known regulator of autophagy. A defective autophagy has been observed in cellular models of BPAN disease and is associated with neurolo...

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Literature Corpus work: 5553b23d-955a-51f7-9716-06c70afd8ccf
DOI: 10.1101/2025.02.06.636873

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