Associated Papers
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP.
Ølnes ÅS et al.
Plos One, 2023
Long-term Benefits and Harms Associated With Genetic Cholesteryl Ester Transfer Protein Deficiency in the General Population.
Nordestgaard LT et al.
Jama Cardiology, 2022
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.
Meroni M et al.
Frontiers in Nutrition, 2022
Lipoprotein distribution and serum concentrations of 7α-hydroxy-4-cholesten-3-one and bile acids: effects of monogenic disturbances in high-density lipoprotein metabolism.
Steiner C et al.
Clinical Science (london, England : 1979), 2012
Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism.
Karuna R et al.
Atherosclerosis, 2011
Select a paper to view details