PCSK9 in South African Variants of Familial Hypercholesterolemia
The half-life of injected PCSK9 varies as a function of the LDLR, being fast with normal levels of functional LDLR, slower with heterozygous mutant LDLR, and slowest when the LDLR is completely absent. [...]in patients, there is a good correlation between LDL-C and PCSK9 in the plasma. The pathway f...
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| Veröffentlicht in: | Journal of the American College of Cardiology 2014-06, Vol.63 (22), p.2374-2375 |
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| container_title | Journal of the American College of Cardiology |
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| creator | Getz, Godfrey S., MD, PhD |
| description | The half-life of injected PCSK9 varies as a function of the LDLR, being fast with normal levels of functional LDLR, slower with heterozygous mutant LDLR, and slowest when the LDLR is completely absent. [...]in patients, there is a good correlation between LDL-C and PCSK9 in the plasma. The pathway for LDLR internalization is not precisely the same for hepatocytes, lymphocytes, and fibroblasts. [...]the cytoplasmic adaptor protein autosomal recessive hypercholesterolemia (ARH) is required for LDLR internalization in hepatocytes and lymphocytes. [...]despite their culture experimental results, in vivo elevated levels of PCSK9 in heterozygous patients with FH may be more deleterious than in patients with non-FH. |
| doi_str_mv | 10.1016/j.jacc.2014.01.059 |
| format | Article |
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| source | MEDLINE; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Cardiology Cardiovascular Cholesterol Female Genes Humans hypercholesterolemia Hypercholesterolemia - blood Hyperlipoproteinemia Type II - blood Internal Medicine Kinases LDLR Male Medical research Mutation PCSK9 Proprotein Convertase 9 Proprotein Convertases - blood Serine Endopeptidases - blood |
| title | PCSK9 in South African Variants of Familial Hypercholesterolemia |
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