KEGG   NETWORK: N00337Help
Entry
N00337                      Network                                

Name
Mutation-activated PCSK9 to PCSK9-mediated LDLR degradation
Definition
PCSK9* -| LDLR
  Expanded
255738v1 -| 3949
Class
nt06320 APOB-LDLR signaling
Type
Variant
Disease
H01635  Hyperlipidemia
H00155  Familial hypercholesterolemia
Gene
255738  PCSK9; proprotein convertase subtilisin/kexin type 9
3949  LDLR; low density lipoprotein receptor
Variant
255738v1  PCSK9 mutation
Reference
  Authors
Fahed AC, Nemer GM
  Title
Familial hypercholesterolemia: the lipids or the genes?
  Journal
Nutr Metab (Lond) 8:23 (2011)
DOI:10.1186/1743-7075-8-23
Reference
  Authors
De Castro-Oros I, Pocovi M, Civeira F
  Title
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.
  Journal
Appl Clin Genet 3:53-64 (2010)
DOI:10.2147/TACG.S8285
Reference
  Authors
Ito MK, Watts GF
  Title
Challenges in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia.
  Journal
Drugs 75:1715-24 (2015)
DOI:10.1007/s40265-015-0466-y
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