2019/06/05 by Cinzia Marchi, Maria Pia Adorni, Paolo Caffarra +6 · 25 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Cholesterol and Lipid Metabolism #Drug Transport and Resistance Mechanisms #Amino Acid Enzymes and Metabolism
paper · pdf · doi:10.1194/jlr.p091033
Dysregulation of cholesterol homeostasis in the CNS has been associated with various neurodegenerative disorders, including Parkinson's, Huntington's, and Alzheimer's disease (AD) (1). Evidence supporting this relationship derives, for example, from recent genomic-wide association studies that have identified several loci involved in lipid metabolism among the AD-susceptible genes (2, 3). For example, the 4 allele of the APOE gene encoding apoE is undoubtedly the most strong genetic risk factor, but recently other genes have been identified such as BIN1, CLU, PICALM, ABCA7, ABCA1, ABCG1, and SORL1 (4).