Associated Papers
The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms.
Sacco M et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S1
Genetic regulation of plasma von Willebrand factor levels in health and disease.
Swystun LL et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
A common polymorphism decreases LRP1 mRNA stability and is associated with increased plasma factor VIII levels.
Lee JD et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C et al.
Plos One, 2016
27249223 (PubMed )
Supplement: pone.0150079.s002.xlsx › Tabelle1
Genetic variations in sites of affinity between FVIII and LRP1 are not associated with high FVIII levels in venous thromboembolism.
Bittar LF et al.
Scientific Reports, 2015
Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.
Jouan L et al.
Behavioral and Brain Functions : Bbf, 2013
LDL receptor-related protein 1: unique tissue-specific functions revealed by selective gene knockout studies.
Lillis AP et al.
Physiological Reviews, 2008
Low-density lipoprotein receptor-related protein 1 polymorphism 663 C > T affects clotting factor VIII activity and increases the risk of venous thromboembolism.
Vormittag R et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
Low-density lipoprotein receptor-related protein polymorphisms in patients with elevated factor VIII coagulant activity and venous thrombosis.
Cunningham N et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2005
Genetic and functional characteristics of the human in vivo LRP1/A2MR receptor suggested as a risk marker for Alzheimer's disease and other complex (degenerative) diseases.
Gläser C et al.
Neuroscience Research, 2004
The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis--novel genomic variants and functional consequences.
Schulz S et al.
Human Mutation, 2002
Sequencing of the coding exons of the LRP1 and LDLR genes on individual DNA samples reveals novel mutations in both genes.
Van Leuven F et al.
Atherosclerosis, 2001
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