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Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants

Etxebarria, Aitor, Benito-Vicente, Asier, Palacios, Lourdes, Stef, Marianne, Cenarro, Ana, Civeira, Fernando, Ostolaza, Helena, Martin, Cesar·2015·Human Mutation
DOI 10.1002/humu.22721
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  • Class II LDLR mutations typically result in more severe familial hypercholesterolemia phenotypes than Class V mutations.

    “However, Class II mutations typically result in more severe FH phenotypes than Class V mutations10”

    From Pathways and Molecular Mechanisms Governing LDL Receptor Regulation (2025) · cites this paper as [10]

    The Discussion reports that, in an in vitro model of the homozygous situation, Class II variants produced a more severe phenotype than Class V variants. But the Introduction and Discussion say the studied heterozygous patients had similar lipid phenotypes, so the paper does not support the unqualified claim that Class II mutations typically cause more severe FH phenotypes. (LLM, conf=0.88)

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Research works printed but not linked: 45

  1. Abifadel, 2003, Mutations in PCSK9 cause autosomal dominant hypercholesterolemia, Nat Genet, 34, 154, 10.1038/ng1161 · DOI · Paper page
  2. Beglova, 2004, Cooperation between fixed and low pH-inducible interfaces controls lipoprotein release by the LDL receptor, Mol Cell, 16, 281, 10.1016/j.molcel.2004.09.038 · DOI
  3. Bertolini, 2013, Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy, Atherosclerosis, 227, 342, 10.1016/j.atherosclerosis.2013.01.007 · DOI
  4. Brown, 1986, A receptor-mediated pathway for cholesterol homeostasis, Science, 232, 34, 10.1126/science.3513311 · DOI · Paper page
  5. Culi, 2003, Boca, an endoplasmic reticulum protein required for wingless signaling and trafficking of LDL receptor family members in Drosophila, Cell, 112, 343, 10.1016/S0092-8674(02)01279-5 · DOI · Paper page
  6. Culi, 2004, Boca-dependent maturation of beta-propeller/EGF modules in low-density lipoprotein receptor proteins, EMBO J, 23, 1372, 10.1038/sj.emboj.7600132 · DOI · Paper page
  7. Chaves, 2001, Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol, J Clin Endocrinol Metab, 86, 4926, 10.1210/jcem.86.10.7899 · DOI
  8. Chen, 1990, NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor, J Biol Chem, 265, 3116, 10.1016/S0021-9258(19)39742-X · DOI · Paper page
  9. Chmara, 2010, Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations, J Appl Genet, 51, 95, 10.1007/BF03195716 · DOI
  10. Choumerianou, 2005, Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background, Clin Chem Lab Med, 43, 793, 10.1515/CCLM.2005.134 · DOI
  11. Dancourt, 2010, Protein sorting receptors in the early secretory pathway, Annu Rev Biochem, 79, 777, 10.1146/annurev-biochem-061608-091319 · DOI
  12. Davis, 1986, The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors, Cell, 45, 15, 10.1016/0092-8674(86)90533-7 · DOI · Paper page
  13. Dvir, 2012, Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail, Proc Natl Acad Sci USA, 109, 6916, 10.1073/pnas.1114128109 · DOI
  14. Ellgaard, 1999, Setting the standards: quality control in the secretory pathway, Science, 286, 1882, 10.1126/science.286.5446.1882 · DOI
  15. Etxebarria, 2012, Functional characterization of splicing and ligand-binding domain variants in the LDL receptor, Hum Mutat, 33, 232, 10.1002/humu.21630 · DOI
  16. Fass, 1997, Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module, Nature, 388, 691, 10.1038/41798 · DOI
  17. Goldstein, 2001, Familial hypercholesterolemia
  18. Gudnason, 1999, Hyperhomocysteinaemia, genetics and cardiovascular disease risk, Eur Heart J, 20, 552
  19. Hobbs, 1992, Molecular genetics of the LDL receptor gene in familial hypercholesterolemia, Hum Mutat, 1, 445, 10.1002/humu.1380010602 · DOI · Paper page
  20. Hoeg, 1993, Homozygous familial hypercholesterolemia: a paradigm for phenotypic variation, Am J Cardiol, 72, 11D, 10.1016/0002-9149(93)90004-V · DOI
  21. Holla, 2009, Nonsense-mediated decay of human LDL receptor mRNA, Scand J Clin Lab Invest, 69, 409, 10.1080/00365510802707163 · DOI
  22. Innerarity, 1990, Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia, J Lipid Res, 31, 1337, 10.1016/S0022-2275(20)42605-7 · DOI · Paper page
  23. Jensen, 1999, Linking genotype to aorto-coronary atherosclerosis: a model using familial hypercholesterolemia and aorto-coronary calcification, Ann Hum Genet, 63, 511, 10.1046/j.1469-1809.1999.6360511.x · DOI
  24. Jeon, 2001, Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair, Nat Struct Biol, 8, 499, 10.1038/88556 · DOI
  25. Kotze, 1993, Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling, Clin Genet, 43, 295, 10.1111/j.1399-0004.1993.tb03821.x · DOI
  26. Leigh, 2008, Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database, Ann Hum Genet, 72, 485, 10.1111/j.1469-1809.2008.00436.x · DOI
  27. Leren, 1995, Is responsiveness to lovastatin in familial hypercholesterolaemia heterozygotes influenced by the specific mutation in the low-density lipoprotein receptor gene?, Eur J Clin Invest, 25, 967, 10.1111/j.1365-2362.1995.tb01975.x · DOI
  28. Leren, 1997, Molecular genetics of familial hypercholesterolaemia in Norway, J Intern Med, 241, 185, 10.1046/j.1365-2796.1997.78119000.x · DOI
  29. Marduel, 2010, Molecular spectrum of autosomal dominant hypercholesterolemia in France, Hum Mutat, 31, E1811, 10.1002/humu.21348 · DOI · Paper page
  30. Miltiadous, 2006, Plasma lipoprotein(a) levels and LDL-cholesterol lowering response to statin therapy in patients with heterozygous familial hypercholesterolemia, Ann Clin Lab Sci, 36, 353
  31. Mozas, 2004, Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR, Hum Mutat, 24, 187, 10.1002/humu.9264 · DOI
  32. Palacios, 2012, Molecular characterization of familial hypercholesterolemia in Spain, Atherosclerosis, 221, 137, 10.1016/j.atherosclerosis.2011.12.021 · DOI
  33. Rudenko, 2002, Structure of the LDL receptor extracellular domain at endosomal pH, Science, 298, 2353, 10.1126/science.1078124 · DOI · Paper page
  34. Sorensen, 2006, Retention of mutant low density lipoprotein receptor in endoplasmic reticulum (ER) leads to ER stress, J Biol Chem, 281, 468, 10.1074/jbc.M507071200 · DOI
  35. Soutar, 2007, Mechanisms of disease: genetic causes of familial hypercholesterolemia, Nat Clin Pract Cardiovasc Med, 4, 214, 10.1038/ncpcardio0836 · DOI · Paper page
  36. Springer, 1998, An extracellular beta-propeller module predicted in lipoprotein and scavenger receptors, tyrosine kinases, epidermal growth factor precursor, and extracellular matrix components, J Mol Biol, 283, 837, 10.1006/jmbi.1998.2115 · DOI
  37. Strom, 2011, Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum, Biochem Biophys Res Commun, 415, 642, 10.1016/j.bbrc.2011.10.127 · DOI
  38. Sudhof, 1985, The LDL receptor gene: a mosaic of exons shared with different proteins, Science, 228, 815, 10.1126/science.2988123 · DOI · Paper page
  39. Tolleshaug, 1982, Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia, Cell, 30, 715, 10.1016/0092-8674(82)90276-8 · DOI · Paper page
  40. Tosi, 2007, Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic, Atherosclerosis, 194, 102, 10.1016/j.atherosclerosis.2006.10.003 · DOI
  41. Van Hoof, 2005, Intracellular fate of LDL receptor family members depends on the cooperation between their ligand-binding and EGF domains, J Cell Sci, 118, 1309, 10.1242/jcs.01725 · DOI
  42. Vohl, 2002, Influence of LDL receptor gene mutation and apo E polymorphism on lipoprotein response to simvastatin treatment among adolescents with heterozygous familial hypercholesterolemia, Atherosclerosis, 160, 361, 10.1016/S0021-9150(01)00584-6 · DOI
  43. Vuorio, 1995, Heterozygous familial hypercholesterolaemia: the influence of the mutation type of the low-density-lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment, J Intern Med, 237, 43, 10.1111/j.1365-2796.1995.tb01138.x · DOI
  44. Yamamoto, 1984, The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA, Cell, 39, 27, 10.1016/0092-8674(84)90188-0 · DOI · Paper page
  45. Yokode, 1992, Cytoplasmic sequence required for basolateral targeting of LDL receptor in livers of transgenic mice, J Cell Biol, 117, 39, 10.1083/jcb.117.1.39 · DOI · Paper page

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Metadata

Authors
Etxebarria, A., Benito-Vicente, A., Palacios, L., Stef, M., Cenarro, A., Civeira, F., Ostolaza, H., & Martin, C.
Affiliations
  • Unidad de Biofísica (CSIC, UPV/EHU) and Departamento de Bioquímica; Universidad del País Vasco; Bilbao 48080 Spain
  • Progenika Biopharma; Grifols; Derio Spain
  • Unidad de Lípidos and Laboratorio de Investigación Molecular; Hospital Universitario Miguel Servet; Instituto Aragonés de Ciencias de la Salud (IACS); Zaragoza Spain
Venue
Human Mutation
Publisher
Hindawi Limited
Published
2014-11-27
Volume
36
Issue
1
Pages
129-141
ISSN
1059-7794
DOI
10.1002/humu.22721
Cited by
48
References
1
Language
en
Licence
doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 278 d)
Funders
  • Spanish Ministerio de Ciencia y Tecnología the Spanish Ministry of Economy and Competitiveness (BFU 2012–36241)
  • Spanish Ministerio de Ciencia y Tecnología the Spanish Ministry of Economy and Competitiveness Programa INNPACTO (IPT-2011-0817-010000)

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