Generates new hiPSC lines to understand neurodegeneration in patients with BPAN, suggesting pathways for therapy.
WDR45 encodes WIPI-4, a β-propeller scaffold protein involved in autophagy regulation. Pathogenic variants in WDR45 lead to β-propeller protein-associated neurodegeneration (BPAN), a form of neurodegeneration with brain iron accumulation (NBIA). Through an integration-free reprogramming approach, we generated six hiPSC lines derived from 4 different patients of both genders carrying different mutations. The six cell lines will contribute to a better understanding of the pathology and pave the way for the development of new therapeutic approaches.
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Tournois et al. (2026) studied this question.
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