Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein

By C. Garcia, K. Wilund, M. Arca, G. Zuliani, R. Fellin, M. Maioli, S. Calandra, S. Bertolini, F. Cossu, Nick V. Grishin and 3 more. Science, 2001

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Mechanisms of Disease: genetic causes of familial hypercholesterolemia (2007, background): “Subsequently, recessive null mutations in a novel gene called LDL receptor adaptor protein 1 ( LDLRAP1 ; also known as ARH ) were observed to cosegregate with hypercholesterolemia in members of these rare 'clinically homozygous' families”
A review on coronary artery disease, its risk factors, and therapeutics (2019, neutral): “Familial hypercholester- olemia is caused by mutations in the LDLR gene (Hobbs, Russell, Brown, & Goldstein, 1990), ApoB100 gene (Lund‐Katz, Laplaud, Phillips, & Chapman, 1998), PCSK9 (Abifadel et al., 2003; Ouguerram et al., 2004), cholesterol 7‐α‐hydroxylase gene (CYP7A1; Pullinger et al., 2002), ”
Association of genes to genetically inherited diseases using data mining (2002, neutral): “hereditary sensory and autonomic neuropathies [3]”
Molecular mechanism and physiological functions of clathrin-mediated endocytosis (2011, background): “For example, ARH is a specific adaptor for low-density lipoprotein receptors (LDLRs”
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 (2003, methodology): “Markers were genotyped in all family members as previously describe”