Caroline A Biagosch, Silvia Vidali, Michael Faerberboeck, Svenja-Viola Hensler, Lore Becker, Oana V Amarie, Antonio Aguilar-Pimentel, Lillian Garrett, Tanja Klein-Rodewald, Birgit Rathkolb, Enrica Zanuttigh, Julia Calzada-Wack, Patricia da Silva-Buttkus, Jan Rozman, Irina Treise, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabě de Angelis, Dirk Janik, Wolfgang Wurst, Johannes A Mayr, Thomas Klopstock, Thomas Meitinger, Holger Prokisch, Arcangela Iuso
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 of Neurodegeneration with Brain Iron Accumulation (NBIA). In the current study, we generated and characterized a whole-body Wdr45 knock-out (KO) mouse model...
October 2021: Mammalian Genome: Official Journal of the International Mammalian Genome Society