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A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family
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Many mutations that cause familial hypercholesterolemia are receptor-null Class I mutations that result in no LDLR protein, while Class II mutations result in production of LDLR protein that is not properly processed.
“While many mutations that cause FH are receptor-null Class I mutations that result in no LDLR protein, Class II mutations result in production of the LDLR protein, but it is not properly processed85–87.”
From Pathways and Molecular Mechanisms Governing LDL Receptor Regulation (2025) · cites this paper as [86]
The Discussion says Class 1 mutations prevent detectable LDLR synthesis and Class 2 mutations impair transport of mutant LDLR through the ER. The Introduction also describes Class 2 mutations as preventing proper transport to the Golgi for receptor modification. Our copy does not establish that many FH-causing mutations are Class I. (LLM, conf=0.86)
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Cites
Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia
Cuchel, M., Bloedon, L. T., Szapary, P. O., Kolansky, D. M., Wolfe, M. L., Sarkis, A., Millar, J. S., Ikewaki, K., Siegelman, E. S., Gregg, R. E., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa061189 · Cited by 580
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia
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Research works printed but not linked: 21
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Sorted by citations
Pathways and Molecular Mechanisms Governing LDL Receptor Regulation
Schmidt, H. M., Jarrett, K. E., de Aguiar Vallim, T. Q., & Tarling, E. J. (2025) · Circulation Research · doi:10.1161/circresaha.124.323578 · Cited by 33
Metadata
- Authors
- Shu, H., Chi, J., Li, J., Zhang, W., Lv, W., Wang, J., Deng, Y., Hou, X., & Wang, Y.
- ORCID
- Wang, Yangang
- Venue
- PLOS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2017-12-11
- Volume
- 12
- Issue
- 12
- Pages
- e0189316
- ISSN
- 1932-6203
- PMC
- PMC5724832
- Cited by
- 10
- References
- 3
- Language
- en
- Funders
- National Natural Science Foundation of China (8157060759, 31201055)
- Natural Science Foundation of Shandong Province (2015GSF118007, ZR2016CB06)
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