WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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