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β-propeller protein-associated neurodegeneration protein WDR45 regulates stress granule disassembly via phase separation with Caprin-1

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0 Published in 2025 at "Nature Communications"

DOI: 10.1038/s41467-025-60583-x

Abstract: β-propeller protein-associated neurodegeneration (BPAN) is a rare X-linked neurodegenerative disorder caused by mutations in the WDR45 gene, yet its molecular mechanisms remain poorly understood. Here, we identify a role for WDR45 in stress granule (SG)… read more here.

Keywords: stress granule; wdr45; protein; granule disassembly ... See more keywords

WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death

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0 Published in 2019 at "Autophagy"

DOI: 10.1080/15548627.2019.1630224

Abstract: ABSTRACT Mutations in the macroautophagy/autophagy gene WDR45 cause β-propeller protein-associated neurodegeneration (BPAN); however the molecular and cellular mechanism of the disease process is largely unknown. Here we generated constitutive wdr45 knockout (KO) mice that displayed… read more here.

Keywords: protein; death; endoplasmic reticulum; autophagy ... See more keywords

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

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0 Published in 2018 at "Brain"

DOI: 10.1093/brain/awy230

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… read more here.

Keywords: mutant cells; wdr45 mutant; iron overload; iron ... See more keywords