ArticleBrain : a journal of neurology2018
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.
Article in Brain : a journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
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- Adult-Onset BPAN: An Atypical Presentation Mimicking Early-Onset Parkinson's Disease.Movement disorders clinical practice · 2025Article
- Iron Dysregulation in Neurodegeneration with Brain Iron Accumulation (NBIA): Links between Mutations Occurring in BPAN, PKAN, MPAN and PLAN Types and Iron Metabolism.Molecular neurobiology · 2025Review
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- WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.European journal of human genetics : EJHG · 2025Article
- Biotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration.International journal of molecular sciences · 2025Article
- Lysosome-Iron-Mitochondria Axis in Osteoclasts: Iron as a Central Player.Research (Washington, D.C.) · 2025Review
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- Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells.BMC genomics · 2024Article
- Ferritinophagy: A novel insight into the double-edged sword in ferritinophagy-ferroptosis axis and human diseases.Cell proliferation · 2024Review
- Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.bioRxiv : the preprint server for biology · 2024Article
- Iron imbalance in neurodegeneration.Molecular psychiatry · 2024Review
- Mechanisms of Ferritinophagy and Ferroptosis in Diseases.Molecular neurobiology · 2024Review
- A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?Autophagy · 2023Article
Corrections and comments
- Erratum issuedCorrigendum.2019
Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Beta-propeller protein-associated neurodegeneration is a subtype of monogenic neurodegeneration with brain iron accumulation caused by de novo mutations in WDR45. The WDR45 protein functions as a beta-propeller scaffold and plays a putative role in autophagy through its interaction with phospholipids and autophagy-related proteins. Loss of WDR45 function due to disease-causing mutations has been linked to defects in autophagic flux in patient and animal cells. However, the role of WDR45 in iron homeostasis remains elusive. Here we studied patient-specific WDR45 mutant fibroblasts and induced pluripotent stem cell-derived midbrain neurons. Our data demonstrated that loss of WDR45 increased cellular iron levels and oxidative stress, accompanied by mitochondrial abnormalities, autophagic defects, and diminished lysosomal function. Restoring WDR45 levels partially rescued oxidative stress and the susceptibility to iron treatment, and activation of autophagy reduced the observed iron overload in WDR45 mutant cells. Our data suggest that iron-containing macromolecules and organelles cannot effectively be degraded through the lysosomal pathway due to loss of WDR45 function.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.