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A Novel Cellular Phenotype for Familial Hypercholesterolemia due to a Defect in Polarized Targeting of LDL Receptor
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Mutations in the LDL receptor that interfere with its basolateral sorting have been identified in patients with familial hypercholesterolemia.
“Mutations in this region of the LDL receptor that interfere with its basolateral sorting have also been identified in patients with familial hypercholesterolemia (5)”
From Sorting Motifs in the Intracellular Domain of the Low Density Lipoprotein Receptor Interact with a Novel Domain of Sorting Nexin-17 (2004) · cites this paper as [5]
The Results describe the FH-Turku LDLR mutation G34D in a basolateral-targeting motif and show that it disrupts polarized sorting. The Discussion links this allele to familial hypercholesterolemia in patients. The paper establishes one such patient-associated mutation, not the multiple mutations implied by the citing sentence. (LLM, conf=0.84)
Experimental — accuracy not yet measuredPlasma membrane associated LDLR were located on the basolateral (sinusoidal) membrane in WIF-B cells.
“Plasma membrane associated LDLR were located on the basolateral (sinusoidal) membrane as previously observed (26)”
From The Modular Adaptor Protein Autosomal Recessive Hypercholesterolemia (ARH) Promotes Low Density Lipoprotein Receptor Clustering into Clathrin-coated Pits (2005) · cites this paper as [26]
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Sorted by citations
Coordinated protein sorting, targeting and distribution in polarized cells
Mellman, I., & Nelson, W. J. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2525 · Cited by 521
Self-citationTreyer, A., & Müsch, A. (2013) · Comprehensive Physiology · doi:10.1002/cphy.c120009 · Cited by 252
Scribble associates with two polarity proteins, Lgl2 and Vangl2, via distinct molecular domains
Kallay, L. M., McNickle, A., Brennwald, P. J., Hubbard, A. L., & Braiterman, L. T. (2006) · Journal of Cellular Biochemistry · doi:10.1002/jcb.20992 · Cited by 156
Self-citationGaruti, R., Jones, C., Li, W.-P., Michaely, P., Herz, J., Gerard, R. D., Cohen, J. C., & Hobbs, H. H. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m509394200 · Cited by 91
Burden, J. J., Sun, X.-M., García, A. B. G., & Soutar, A. K. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m313689200 · Cited by 82
Metadata
- Authors
- Koivisto, U.-M., Hubbard, A. L., & Mellman, I.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2001-06
- Volume
- 105
- Issue
- 5
- Pages
- 575-585
- ISSN
- 0092-8674
- Cited by
- 81
- References
- 0
- Language
- en
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