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Article

WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN).

Biochimica et biophysica acta. Molecular cell research - 1 Dec 2024

Garavaglia Barbara, Nasca Alessia, Mitola Stefania, Ingrassia Rosaria

Abstract excerpt

De novo mutations in the WDR45 gene have been found in patients affected by Neurodegeneration with Brain Iron Accumulation type 5 (NBIA5 or BPAN), with Non-Transferrin Bound Iron (NTBI) accumulation in the basal ganglia and WDR45-dependent impairment of autophagy. Here we show the downregulation of TFEB and cell cycle impairment in BPAN primary fibroblasts. Noteworthy, TFEB overexpression rescued this impairment,...

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Identifiers

PMID: 39265886
DOI: 10.1016/j.bbamcr.2024.119842

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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