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A dwdr45 knock-out drosophila model to decipher the role of autophagy in BPAN.

Human molecular genetics - 10 Feb 2026

Celle Marion, Aniorte Sahra, Issa Abdul-Raouf, Falabregue Marion, Jin Haixiu, Sanchez-Mirasierra Irene, Ding Shuzhe, Soukup Sandra-Fausia, Seugnet Laurent, Liao Lujian, Lesca Gaetan, Walter Ludivine, Mollereau Bertrand

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...

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PMID: 41459814
DOI: 10.1093/hmg/ddaf198

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