KEGG   NETWORK: N00335Help
Entry
N00335                      Network                                

Name
Mutation-inactivated LDLRAP1 to vesicular uptake of lipoproteins
Definition
APOB -> LDLR // LDLRAP1*
  Expanded
338 -> 3949 // 26119v1
Class
nt06320 APOB-LDLR signaling
Type
Variant
Pathway
hsa04979  Cholesterol metabolism
Disease
H01635  Hyperlipidemia
H01918  Familial autosomal recessive hypercholesterolemia
Gene
338  APOB; apolipoprotein B
3949  LDLR; low density lipoprotein receptor
26119  LDLRAP1; low density lipoprotein receptor adaptor protein 1
Variant
26119v1  LDLRAP1 mutation
Reference
  Authors
Soutar AK, Naoumova RP
  Title
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
  Journal
Nat Clin Pract Cardiovasc Med 4:214-25 (2007)
DOI:10.1038/ncpcardio0836
Reference
  Authors
Dvir H, Shah M, Girardi E, Guo L, Farquhar MG, Zajonc DM
  Title
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
  Journal
Proc Natl Acad Sci U S A 109:6916-21 (2012)
DOI:10.1073/pnas.1114128109
Reference
  Authors
Paththinige CS, Sirisena ND, Dissanayake V
  Title
Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.
  Journal
Lipids Health Dis 16:103 (2017)
DOI:10.1186/s12944-017-0488-4
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
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