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Article

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.

Brain : a journal of neurology - 1 Oct 2018

Seibler Philip, Burbulla Lena F, Dulovic Marija, Zittel Simone, Heine Johanne, Schmidt Thomas, Rudolph Franziska, Westenberger Ana, Rakovic Aleksandar, Münchau Alexander, Krainc Dimitri, Klein Christine

Abstract excerpt

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...

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Identifiers

PMID: 30169597
DOI: 10.1093/brain/awy230
PMCID: PMC7190033

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