Nature Communications (Mar 2016)
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL
- Paulina Bartuzi,
- Daniel D. Billadeau,
- Robert Favier,
- Shunxing Rong,
- Daphne Dekker,
- Alina Fedoseienko,
- Hille Fieten,
- Melinde Wijers,
- Johannes H. Levels,
- Nicolette Huijkman,
- Niels Kloosterhuis,
- Henk van der Molen,
- Gemma Brufau,
- Albert K. Groen,
- Alison M. Elliott,
- Jan Albert Kuivenhoven,
- Barbara Plecko,
- Gernot Grangl,
- Julie McGaughran,
- Jay D. Horton,
- Ezra Burstein,
- Marten H. Hofker,
- Bart van de Sluis
Affiliations
- Paulina Bartuzi
- Department of Pediatrics, Molecular Genetics Section, University of Groningen, University Medical Center Groningen
- Daniel D. Billadeau
- Department of Immunology, Mayo Clinic College of Medicine, Mayo Clinic
- Robert Favier
- Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University
- Shunxing Rong
- Department of Molecular Genetics, University of Texas Southwestern Medical Center
- Daphne Dekker
- Department of Pediatrics, Molecular Genetics Section, University of Groningen, University Medical Center Groningen
- Alina Fedoseienko
- Department of Pediatrics, Molecular Genetics Section, University of Groningen, University Medical Center Groningen
- Hille Fieten
- Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University
- Melinde Wijers
- Department of Pediatrics, Molecular Genetics Section, University of Groningen, University Medical Center Groningen
- Johannes H. Levels
- Department of Vascular and Experimental Vascular Medicine, Academic Medical Center, University of Amsterdam
- Nicolette Huijkman
- Department of Pediatrics, Molecular Genetics Section, University of Groningen, University Medical Center Groningen
- Niels Kloosterhuis
- Department of Pediatrics, Molecular Genetics Section, University of Groningen, University Medical Center Groningen
- Henk van der Molen
- Department of Pediatrics, Molecular Genetics Section, University of Groningen, University Medical Center Groningen
- Gemma Brufau
- Department of Pediatrics, University of Groningen, University Medical Center Groningen
- Albert K. Groen
- Department of Pediatrics, University of Groningen, University Medical Center Groningen
- Alison M. Elliott
- Department of Medical Genetics, University of British Columbia
- Jan Albert Kuivenhoven
- Department of Pediatrics, Molecular Genetics Section, University of Groningen, University Medical Center Groningen
- Barbara Plecko
- Department of Pediatrics and Adolescence Medicine, Division of Child Neurology, Medical University Graz
- Gernot Grangl
- Department of Pediatrics and Adolescence Medicine, Division of Child Neurology, Medical University Graz
- Julie McGaughran
- Genetic Health Queensland at the Royal Brisbane and Women’s Hospital, Herston, University of Queensland
- Jay D. Horton
- Department of Molecular Genetics, University of Texas Southwestern Medical Center
- Ezra Burstein
- Department of Internal Medicine, University of Texas Southwestern Medical Center
- Marten H. Hofker
- Department of Pediatrics, Molecular Genetics Section, University of Groningen, University Medical Center Groningen
- Bart van de Sluis
- Department of Pediatrics, Molecular Genetics Section, University of Groningen, University Medical Center Groningen
- DOI
- https://doi.org/10.1038/ncomms10961
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 11
Abstract
Low density lipoprotein receptor (LDLR) is crucial for cholesterol homeostasis. Here, the authors show that components of the CCC-protein complex, CCDC22 and COMMD1, facilitate the endosomal sorting of LDLR and that mutations in these genes cause hypercholesterolemia in dogs and mice, providing new insights into regulation of cholesterol homeostasis.
