scholarly journals The Modular Adaptor Protein Autosomal Recessive Hypercholesterolemia (ARH) Promotes Low Density Lipoprotein Receptor Clustering into Clathrin-coated Pits

2005 ◽  
Vol 280 (49) ◽  
pp. 40996-41004 ◽  
Author(s):  
Rita Garuti ◽  
Christopher Jones ◽  
Wei-Ping Li ◽  
Peter Michaely ◽  
Joachim Herz ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Adaptor Protein ◽  
Low Density ◽  
Lipoprotein Receptor ◽  
Coated Pits ◽  
Low Density Lipoprotein Receptor ◽  
Density Lipoprotein Receptor ◽  
Autosomal Recessive Hypercholesterolemia

scholarly journals FCH domain only-2 organizes clathrin-coated structures and interacts with Disabled-2 for low-density lipoprotein receptor endocytosis

2012 ◽  
Vol 23 (7) ◽  
pp. 1330-1342 ◽  
Author(s):  
Erin E. Mulkearns ◽  
Jonathan A. Cooper
Keyword(s):  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Adaptor Protein ◽  
Accessory Proteins ◽  
Low Density ◽  
Lipoprotein Receptor ◽  
Additional Time ◽  
Low Density Lipoprotein Receptor ◽  
Interacting Protein ◽  
Density Lipoprotein Receptor

Clathrin-mediated endocytosis regulates the internalization of many nutrient and signaling receptors. Clathrin and endocytic accessory proteins are recruited to receptors by specific adaptors. The adaptor Disabled-2 (Dab2) recruits its cargoes, including the low-density lipoprotein receptor (LDLR), and mediates endocytosis, even when the major adaptor protein AP2 is depleted. We hypothesized that the accessory proteins normally recruited by AP2 may be recruited by Dab2 if AP2 is absent. We identified one such accessory protein, the F-BAR protein FCH domain only-2 (FCHO2), as a major Dab2-interacting protein. The μ-homology domain (μHD) of FCHO2 binds directly to DPF sequences in Dab2 that also bind AP2. Disrupting the Dab2-FCHO2 interaction inhibited Dab2-mediated LDLR endocytosis in AP2-depleted cells. Depleting FCHO2 reduced the number but increased the size of clathrin structures on the adherent surface of HeLa cells and inhibited LDLR and transferrin receptor clustering. However, LDLR was internalized efficiently by FCHO2-deficient cells when additional time was provided for LDLR to enter the enlarged structures before budding, suggesting that later steps of endocytosis are normal under these conditions. These results indicate FCHO2 regulates the size of clathrin structures, and its interaction with Dab2 is needed for LDLR endocytosis under conditions of low AP2.

scholarly journals The Adaptor Protein β-Arrestin2 Enhances Endocytosis of the Low Density Lipoprotein Receptor

2003 ◽  
Vol 278 (45) ◽  
pp. 44238-44245 ◽  
Author(s):  
Jiao-Hui Wu ◽  
Karsten Peppel ◽  
Christopher D. Nelson ◽  
Fang-Tsyr Lin ◽  
Trudy A. Kohout ◽  
...  
Keyword(s):  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Adaptor Protein ◽  
Low Density ◽  
Lipoprotein Receptor ◽  
Low Density Lipoprotein Receptor ◽  
Density Lipoprotein Receptor

scholarly journals Genes Potentially Associated with Familial Hypercholesterolemia

Biomolecules ◽  
2019 ◽  
Vol 9 (12) ◽  
pp. 807 ◽  
Author(s):  
Svetlana Mikhailova ◽  
Dinara Ivanoshchuk ◽  
Olga Timoshchenko ◽  
Elena Shakhtshneider
Keyword(s):  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Adaptor Protein ◽  
Atp Binding ◽  
Low Density ◽  
Lipoprotein Receptor ◽  
Low Density Lipoprotein Receptor ◽  
Density Lipoprotein Receptor ◽  
Atp Binding Cassette

This review addresses the contribution of some genes to the phenotype of familial hypercholesterolemia. At present, it is known that the pathogenesis of this disease involves not only a pathological variant of low-density lipoprotein receptor and its ligands (apolipoprotein B, proprotein convertase subtilisin/kexin type 9 or low-density lipoprotein receptor adaptor protein 1), but also lipids, including sphingolipids, fatty acids, and sterols. The genetic cause of familial hypercholesterolemia is unknown in 20%–40% of the cases. The genes STAP1 (signal transducing adaptor family member 1), CYP7A1 (cytochrome P450 family 7 subfamily A member 1), LIPA (lipase A, lysosomal acid type), ABCG5 (ATP binding cassette subfamily G member 5), ABCG8 (ATP binding cassette subfamily G member 8), and PNPLA5 (patatin like phospholipase domain containing 5), which can cause aberrations of lipid metabolism, are being evaluated as new targets for the diagnosis and personalized management of familial hypercholesterolemia.

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