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Updated: Feb 5, 2026

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
Published on: March 14, 2017
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells
Philip Seibler1, Lena F Burbulla2, Marija Dulovic1
1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Loss of WDR45 protein impairs cellular iron regulation and autophagy, leading to neurodegeneration. Restoring WDR45 or activating autophagy may offer therapeutic strategies for this condition.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic disorder.
- Mutations in WDR45 cause BPAN, affecting brain iron accumulation.
- WDR45 protein is implicated in autophagy, but its role in iron homeostasis is unclear.
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