Article
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Oct 2021
Biagosch Caroline A, Vidali Silvia, Faerberboeck Michael, Hensler Svenja-Viola, Becker Lore, Amarie Oana V, Aguilar-Pimentel Antonio, Garrett Lillian, Klein-Rodewald Tanja, Rathkolb Birgit, Zanuttigh Enrica, Calzada-Wack Julia, da Silva-Buttkus Patricia, Rozman Jan, Treise Irina, Fuchs Helmut, Gailus-Durner Valerie, de Angelis Martin Hrabě, Janik Dirk, Wurst Wolfgang, Mayr Johannes A, Klopstock Thomas, Meitinger Thomas, Prokisch Holger, Iuso Arcangela
Abstract excerpt
Pathogenic variants in the WDR45 (OMIM: 300,526) gene on chromosome Xp11 are the genetic cause of a rare neurological disorder characterized by increased iron deposition in the basal ganglia. As WDR45 encodes a beta-propeller scaffold protein with a putative role in autophagy, the disease has been named Beta-Propeller Protein-Associated Neurodegeneration (BPAN). BPAN represents one of the four most common forms...
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