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Entry
N00333                      Network                                

Name
Mutation-caused aberrant APOB to vesicular uptake of lipoproteins
Definition
APOB* // LDLR
  Expanded
338v1 // 3949
Class
nt06320 APOB-LDLR signaling
Type
Variant
Pathway
hsa04979  Cholesterol metabolism
Disease
H01635  Hyperlipidemia
H00155  Familial hypercholesterolemia
Gene
338  APOB; apolipoprotein B
3949  LDLR; low density lipoprotein receptor
Variant
338v1  APOB mutation
Reference
PMID:3477815
  Authors
Innerarity TL, Weisgraber KH, Arnold KS, Mahley RW, Krauss RM, Vega GL, Grundy SM
  Title
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.
  Journal
Proc Natl Acad Sci U S A 84:6919-23 (1987)
DOI:10.1073/pnas.84.19.6919
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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