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Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene.
Stem Cell Res. 90:103892 (2025)
Beta-propeller Protein-Associated Neurodegeneration (BPAN) is a rare X-linked dominant disorder (ORPHA:329284) characterized by brain iron accumulation, developmental delay, seizures, motor dysfunction, and progressive neurodegeneration. It results from pathogenic variants inWDR45, encoding WDR45/WIPI4, a key autophagy protein. No curative treatment exists; management is supportive. As BPAN pathogenesis remains unclear, research aims to elucidate its molecular mechanisms and develop targeted therapies. We generated and characterized two induced pluripotent stem cell (iPSC) lines from BPAN patient fibroblasts, providing essential models for studying disease mechanisms and developing effective therapeutic strategies.
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Publication type
Article: Journal article
Document type
Scientific Article
ISSN (print) / ISBN
1873-5061
e-ISSN
1876-7753
Journal
Stem Cell Research
Quellenangaben
Volume: 90,
Article Number: 103892
Publisher
Elsevier
Publishing Place
Radarweg 29, 1043 Nx Amsterdam, Netherlands
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
NBIA Disorders Associa-tion and SyNergy Munich Cluster for Systems Neurology grants
Erasmus + Traineeship and FaBiT (Department of Pharmacy and Biotechnology - University of Bologna, Italy)
NBIA Disorders Association
Erasmus + Traineeship and FaBiT (Department of Pharmacy and Biotechnology - University of Bologna, Italy)
NBIA Disorders Association