Genetic Mutations Affecting Human Lipoproteins, Their Receptors, and Their Enzymes
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Mutations in the 136-150 region of the N-terminal domain of apoE reduce LDL receptor binding capacity and have been linked with lipoprotein disorders such as type III hyperlipoproteinemia in humans.
“Mutations in the 136–150 region of the N-terminal domain of apoE, reduce its low density lipoprotein (LDL) receptor binding capacity and have been linked with lipoprotein disorders, such as type III hyperlipoproteinemia (HLP) in humans.”
From Biophysical Analysis of Apolipoprotein E3 Variants Linked with Development of Type III Hyperlipoproteinemia (2011) · cites this paper as [26]
These apoE3 variants maintain their ability to predispose to type III HLP and do so in a dominant fashion, unlike apoE2.
“Still, these variants not only maintain their ability to predispose to type III HLP, but also do so in a dominant fashion, unlike apoE2 [22], [26], [30], [31], [33], [34], [35].”
From Biophysical Analysis of Apolipoprotein E3 Variants Linked with Development of Type III Hyperlipoproteinemia (2011) · cites this paper as [26]
A variety of rare mutations in the 136-147 region of apoE are associated with a dominant mode of inheritance of type III HLP that is expressed at an early age.
“A variety of rare mutations in the 136-147 region of apoE are associated with a dominant mode of inheritance of type III HLP that is expressed at an early age ( 7,8,12,13 ).”
From Molecular etiology of a dominant form of type III hyperlipoproteinemia caused by R142C substitution in apoE4 (2011) · cites this paper as [12]
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References 1,044 · Cited by 78
- Authors
- Zannis, V. I., Kardassis, D., & Zanni, E. E.
- Affiliations
- Boston University (US)
- Venue
- Advances in Human Genetics 21
- Publisher
- Springer US
- Published
- 1993
- Volume
- 21
- Pages
- 145-319
- OpenAlex
- W15063664
- Cited by
- 78
- References
- 1,044
- Citations by year
- 2025: 2 · 2022: 2 · 2021: 6 · 2020: 2 · 2019: 2 · 2017: 2 · 2016: 1 · 2015: 1 · 2014: 5 · 2013: 4 · 2012: 3
- FWCI
- 13.34
- Type
- book chapter
- Language
- en
- Open access
- closed
- Licence
- Locations
- Springer eBooks (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (HL-07224, HL-33952, T32HL007224, R01HL033952)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Keywords
- genetic mutations, lipoproteins, apolipoproteins, lipoprotein receptors, chylomicrons, VLDL, low-density lipoprotein, high-density lipoprotein, intermediate density lipoprotein, apolipoprotein synthesis
- MeSH terms
- Amino Acid Sequence, Animals, Base Sequence, DNA, Humans, Phosphatidylcholine-Sterol O-Acyltransferase, Lipase, Lipoprotein Lipase, Lipoproteins, Molecular Sequence Data, Mutation, Receptors, Cell Surface, Receptors, Lipoprotein
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