University of Groningen CCC-and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating

[1]  M. Vooijs,et al.  Endosomal sorting of Notch receptors through COMMD9-dependent pathways modulates Notch signaling , 2015, The Journal of cell biology.

[2]  Edward L. Huttlin,et al.  The BioPlex Network: A Systematic Exploration of the Human Interactome , 2015, Cell.

[3]  J. Borén,et al.  Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment , 2015, European heart journal.

[4]  P. Robinson,et al.  Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome , 2015, European Journal of Human Genetics.

[5]  B. van de Sluis,et al.  The life cycle of the low-density lipoprotein receptor: insights from cellular and in-vivo studies , 2015, Current opinion in lipidology.

[6]  D. G. Osborne,et al.  COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A , 2015, Molecular biology of the cell.

[7]  A. de Bruin,et al.  A cell-type-specific role for murine Commd1 in liver inflammation. , 2014, Biochimica et biophysica acta.

[8]  J. Borén,et al.  Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society , 2014, Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir.

[9]  D. Rubinsztein,et al.  Mutation in VPS35 associated with Parkinson’s disease impairs WASH complex association and inhibits autophagy , 2014, Nature Communications.

[10]  G. Hesketh,et al.  RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation , 2014, Journal of Cell Science.

[11]  A. Gautreau,et al.  Retromer-mediated endosomal protein sorting: all WASHed up! , 2013, Trends in cell biology.

[12]  G. Hatch,et al.  A novel mutation in KIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort , 2013, Journal of Medical Genetics.

[13]  B. Vassilev,et al.  Scratching the surface: Regulation of cell surface receptors in cholesterol metabolism , 2016 .

[14]  Jiyeon Lee,et al.  A Sorting Nexin 17‐Binding Domain Within the LRP1 Cytoplasmic Tail Mediates Receptor Recycling Through the Basolateral Sorting Endosome , 2013, Traffic.

[15]  A. Gautreau,et al.  Endosomal recruitment of the WASH complex: Active sequences and mutations impairing interaction with the retromer , 2013, Biology of the cell.

[16]  Marco Y. Hein,et al.  CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. , 2013, The Journal of clinical investigation.

[17]  J. Tavaré,et al.  A global analysis of SNX27–retromer assembly and cargo specificity reveals a function in glucose and metal ion transport , 2013, Nature Cell Biology.

[18]  B. P. Warrenburg,et al.  Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene , 2013, Journal of Neurology.

[19]  A. Watson,et al.  Association of dietary copper and zinc levels with hepatic copper and zinc concentration in Labrador Retrievers. , 2012, Journal of veterinary internal medicine.

[20]  D. Billadeau,et al.  Trafficking defects in WASH-knockout fibroblasts originate from collapsed endosomal and lysosomal networks , 2012, Molecular biology of the cell.

[21]  Jan Rothuizen,et al.  COMMD1-Deficient Dogs Accumulate Copper in Hepatocytes and Provide a Good Model for Chronic Hepatitis and Fibrosis , 2012, PloS one.

[22]  M. Rosen,et al.  Multiple repeat elements within the FAM21 tail link the WASH actin regulatory complex to the retromer , 2012, Molecular biology of the cell.

[23]  M. Seaman,et al.  Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35. , 2012, The Biochemical journal.

[24]  C. Wijmenga,et al.  Liver-Specific Commd1 Knockout Mice Are Susceptible to Hepatic Copper Accumulation , 2011, PloS one.

[25]  H. Korswagen,et al.  Sorting nexins provide diversity for retromer-dependent trafficking events , 2011, Nature Cell Biology.

[26]  A. Watson,et al.  Canine models of copper toxicosis for understanding mammalian copper metabolism , 2011, Mammalian Genome.

[27]  M. Farrer,et al.  VPS35 mutations in Parkinson disease. , 2011, American journal of human genetics.

[28]  C. Wijmenga,et al.  The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression , 2011, Cellular and Molecular Life Sciences.

[29]  C. Ballantyne,et al.  Pharmacological strategies for lowering LDL cholesterol: statins and beyond , 2011, Nature Reviews Cardiology.

[30]  Andrea Bugarcic,et al.  Phox homology band 4.1/ezrin/radixin/moesin-like proteins function as molecular scaffolds that interact with cargo receptors and Ras GTPases , 2011, Proceedings of the National Academy of Sciences.

[31]  E. Derivery,et al.  Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. , 2011, Human molecular genetics.

[32]  Benjamin E. L. Lauffer,et al.  SNX27 mediates retromer tubule entry and endosome-to-plasma membrane trafficking of signaling receptors , 2011, Nature Cell Biology.

[33]  M. Seaman,et al.  The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics , 2010, Journal of Cell Science.

[34]  W. Stremmel,et al.  Alterations of lipid metabolism in Wilson disease , 2010, Lipids in Health and Disease.

[35]  D. Billadeau,et al.  A FAM21-containing WASH complex regulates retromer-dependent sorting. , 2009, Developmental cell.

[36]  P. Tontonoz,et al.  LXR Regulates Cholesterol Uptake Through Idol-Dependent Ubiquitination of the LDL Receptor , 2009, Science.

[37]  Aparna Repaka,et al.  GCN5 is a required cofactor for a ubiquitin ligase that targets NF-kappaB/RelA. , 2009, Genes & development.

[38]  Jonathan C. Cohen,et al.  Identification of a VLDL‐induced, FDNPVY‐independent internalization mechanism for the LDLR , 2007, The EMBO journal.

[39]  C. Wijmenga,et al.  Increased Activity of Hypoxia-Inducible Factor 1 Is Associated with Early Embryonic Lethality in Commd1 Null Mice , 2007, Molecular and Cellular Biology.

[40]  O. Fiehn,et al.  High Copper Selectively Alters Lipid Metabolism and Cell Cycle Machinery in the Mouse Model of Wilson Disease* , 2007, Journal of Biological Chemistry.

[41]  Jonathan C. Cohen,et al.  Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia. , 2007, The Journal of clinical investigation.

[42]  R. Hammer,et al.  Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice. , 2006, The Journal of clinical investigation.

[43]  K. Adeli,et al.  Pediatric reference intervals for lipids and apolipoproteins on the VITROS 5,1 FS Chemistry System. , 2006, Clinical biochemistry.

[44]  Wenyan Lu,et al.  Sorting nexin 17 facilitates LRP recycling in the early endosome , 2005, The EMBO journal.

[45]  John C. Wilkinson,et al.  COMMD Proteins, a Novel Family of Structural and Functional Homologs of MURR1* , 2005, Journal of Biological Chemistry.

[46]  E. Fisher,et al.  Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[47]  Liqin Du,et al.  Macrophage colony-stimulating factor differentially regulates low density lipoprotein and transferrin receptors Published, JLR Papers in Press, June 21, 2004. DOI 10.1194/jlr.M400140-JLR200 , 2004, Journal of Lipid Research.

[48]  M. Krempf,et al.  Metabolism of cholesterol ester of apolipoprotein B100‐containing lipoproteins in dogs: evidence for disregarding cholesterol ester transfer , 2004, European journal of clinical investigation.

[49]  J. Breslow,et al.  Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[50]  A. Soutar,et al.  Sorting Motifs in the Intracellular Domain of the Low Density Lipoprotein Receptor Interact with a Novel Domain of Sorting Nexin-17* , 2004, Journal of Biological Chemistry.

[51]  Jonathan C. Cohen,et al.  Normal Sorting but Defective Endocytosis of the Low Density Lipoprotein Receptor in Mice with Autosomal Recessive Hypercholesterolemia* , 2003, Journal of Biological Chemistry.

[52]  S. V. van Deventer,et al.  Lipid composition and lipopolysaccharide binding capacity of lipoproteins in plasma and lymph of patients with systemic inflammatory response syndrome and multiple organ failure. , 2003, Critical care medicine.

[53]  W. Schneider,et al.  The PX‐domain protein SNX17 interacts with members of the LDL receptor family and modulates endocytosis of the LDL receptor , 2002, The EMBO journal.

[54]  C. Wijmenga,et al.  Identification of a new copper metabolism gene by positional cloning in a purebred dog population. , 2002, Human molecular genetics.

[55]  R. Hammer,et al.  Sustained somatic gene inactivation by viral transfer of Cre recombinase , 1996, Nature Biotechnology.

[56]  J. Herz,et al.  Role of the low density lipoprotein receptor in the flux of cholesterol through the plasma and across the tissues of the mouse. , 1995, The Journal of clinical investigation.

[57]  J. Viikari,et al.  Age and gender specific serum lipid and apolipoprotein fractiles of Finnish children and young adults. The Cardiovascular Risk in Young Finns Study , 1994, Acta paediatrica.

[58]  M. Brown,et al.  A receptor-mediated pathway for cholesterol homeostasis. , 1986, Science.

[59]  A. Fedoseienko.  Identification of a novel multiprotein complex in cargo sorting that preserves metabolic pathways in the liver , 2016 .

[60]  M. Zatz,et al.  Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. , 2007, American journal of human genetics.

[61]  T. Kohout,et al.  The adaptor protein beta-arrestin2 enhances endocytosis of the low density lipoprotein receptor. , 2003, The Journal of biological chemistry.