Rita C Andersen, Jan H Schmidt, Joscha Rombach, Matthew D Lycas, Nikolaj R Christensen, Viktor K Lund, Donnie S Stapleton, Signe S Pedersen, Mathias A Olsen, Mikkel Stoklund, Gith Noes-Holt, Tommas Te Nielsen, Mark P Keller, Anna M Jansen, Rasmus Herlo, Massimo Pietropaolo, Jens B Simonsen, Ole Kjærulff, Birgitte Holst, Alan D Attie, Ulrik Gether, Kenneth L Madsen
Bin/amphiphysin/Rvs (BAR) domains are positively charged crescent-shaped modules that mediate curvature of negatively charged lipid membranes during remodeling processes. The BAR domain proteins PICK1, ICA69, and the arfaptins have recently been demonstrated to coordinate the budding and formation of immature secretory granules (ISGs) at the trans-Golgi network. Here, we identify 4 coding variants in the PICK1 gene from a whole-exome screening of Danish patients with diabetes that each involve a change in positively charged residues in the PICK1 BAR domain...
March 1, 2022: Journal of Clinical Investigation