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Generation of hiPSCs (JUCGRMi008-A) from a β-propeller protein-associated neurodegeneration patient with WDR45 mutation.

Stem cell research - 1 Aug 2026

Kamikura Rino, Liu Xing, Ishikawa Kei-Ichi, Yoshino Hiroyo, Hattori Nobutaka, Akamatsu Wado

Abstract excerpt

The WDR45 gene encodes WIPI4, a protein that plays a crucial role in autophagy. Mutations in WDR45 lead to excessive iron deposition in the central nervous system, resulting in β-propeller protein-associated neurodegeneration (BPAN) which is characterized by progressive dystonia and Parkinsonism. In this study, we established an induced pluripotent stem cell (iPSC) line from a BPAN patient with WDR45 mutation....

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Identifiers

PMID: 42119323
DOI: 10.1016/j.scr.2026.104012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Generation of hiPSCs (JUCGRMi008-A) from a β-propeller protein-associated neurodegeneration patient with WDR45 mutation.PMID 42119323Read ↗

Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).Semantic proximity Read ↗

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A <i>dwdr45</i> knock-out <i>Drosophila</i> model to decipher the role of autophagy in BPANSemantic proximity Read ↗

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Human WIPI β-propeller function in autophagy and neurodegeneration.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7.Semantic proximity Read ↗

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.Semantic proximity Read ↗

Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated NeurodegenerationSemantic proximity Read ↗

Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiencySemantic proximity Read ↗

AAV-mediated gene transfer of WDR45 corrects neurologic deficits in the mouse model of beta-propeller protein-associated neurodegenerationSemantic proximity Read ↗

Generation of hiPSCs (JUCGRMi003-A) from a patient with Parkinson's disease with PARK2 mutation.Semantic proximity Read ↗

Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene.Semantic proximity Read ↗

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