Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Cell Culture
SUBMITTER: Katrina Meyer
LAB HEAD: Matthias Selbach
PROVIDER: PXD010061 | Pride | 2018-09-13
REPOSITORIES: Pride
Meyer Katrina K Kirchner Marieluise M Uyar Bora B Cheng Jing-Yuan JY Russo Giulia G Hernandez-Miranda Luis R LR Szymborska Anna A Zauber Henrik H Rudolph Ina-Maria IM Willnow Thomas E TE Akalin Altuna A Haucke Volker V Gerhardt Holger H Birchmeier Carmen C Kühn Ralf R Krauss Michael M Diecke Sebastian S Pascual Juan M JM Selbach Matthias M
Cell 20180906 1
Many disease-causing missense mutations affect intrinsically disordered regions (IDRs) of proteins, but the molecular mechanism of their pathogenicity is enigmatic. Here, we employ a peptide-based proteomic screen to investigate the impact of mutations in IDRs on protein-protein interactions. We find that mutations in disordered cytosolic regions of three transmembrane proteins (GLUT1, ITPR1, and CACNA1H) lead to an increased clathrin binding. All three mutations create dileucine motifs known to ...[more]