Article
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
Nature communications - 11 Mar 2016
Bartuzi Paulina, Billadeau Daniel D, Favier Robert, Rong Shunxing, Dekker Daphne, Fedoseienko Alina, Fieten Hille, Wijers Melinde, Levels Johannes H, Huijkman Nicolette, Kloosterhuis Niels, van der Molen Henk, Brufau Gemma, Groen Albert K, Elliott Alison M, Kuivenhoven Jan Albert, Plecko Barbara, Grangl Gernot, McGaughran Julie, Horton Jay D, Burstein Ezra, Hofker Marten H, van de Sluis Bart
Abstract excerpt
The low-density lipoprotein receptor (LDLR) plays a pivotal role in clearing atherogenic circulating low-density lipoprotein (LDL) cholesterol. Here we show that the COMMD/CCDC22/CCDC93 (CCC) and the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complexes are both crucial for endosomal sorting of LDLR and for its function. We find that patients with X-linked intellectual disability caused by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.