R. Mahley

Publications389
h-index120
Citations53,553
Highly Influential Citations1,419
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Apolipoprotein E: cholesterol transport protein with expanding role in cell biology.
  • R. Mahley
  • Biology, Medicine
    Science
  • 29 April 1988
Apolipoprotein E is a plasma protein that serves as a ligand for low density lipoprotein receptors and, through its interaction with these receptors, participates in the transport of cholesterol and…
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
TLDR
It is demonstrated that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes.
Apolipoprotein E: far more than a lipid transport protein.
TLDR
Functional differences in the apoE isoforms that affect (or did affect) survival before the reproductive years probably account, at least in part, for the allele frequencies of the present day.
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
TLDR
It is demonstrated that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.
Ancient human genomes suggest three ancestral populations for present-day Europeans
TLDR
It is shown that the great majority of present-day Europeans derive from at least three highly differentiated populations: West European Hunter-Gatherers (WHG), who contributed ancestry to all Europeans but not to Near Easterners; Ancient North Eurasians (ANE); and Early European Farmers (EEF), who were mainly of Near Eastern origin but also harbored WHG-related ancestry.
Plasma lipoproteins: apolipoprotein structure and function.
TLDR
Future studies will rely heavily on the use of recombinant DNA technology and site-specific mutagenesis to elucidate further the correlations between structure and function and the role of specific apolipoproteins in lipoprotein metabolism.
Apolipoprotein E4: a causative factor and therapeutic target in neuropathology, including Alzheimer's disease.
TLDR
The premise of this review is that apolipoprotein (apo) E4 is much more than a contributing factor to neurodegeneration, and potential therapeutic strategies are suggested, including the use of "structure correctors" to convert apoE4 to an "apoE3-like" molecule, protease inhibitors to prevent the generation of toxic apOE4 fragments, and "mitochondrial protector" to prevent cellular energy disruption.
Turkish Heart Study: lipids, lipoproteins, and apolipoproteins.
TLDR
The Turkish people were found to have very low levels of high density lipoprotein (HDL) cholesterol (HDE) and total cholesterol/HDL-C ratios that were high and smoking, a major risk factor for heart disease, was very prevalent in the Turkish population.
Apolipoprotein E fragments present in Alzheimer's disease brains induce neurofibrillary tangle-like intracellular inclusions in neurons
TLDR
The results suggest that apoE4 preferentially undergoes intracellular processing, creating a bioactive fragment that interacts with cytoskeletal components and induces NFT-like inclusions containing phosphorylated tau andosphorylated neurofilaments of high molecular weight in neurons.
Meta-analysis and imputation refines the association of 15q25 with smoking quantity
TLDR
TheOx-GSK study established to perform a genome-wide meta-analysis of SNP association with smoking-related behavioral traits confirmed an effect on smoking quantity at a locus on 15q25 that includes CHRNA5, CHRNA3 and CHRNB4, three genes encoding neuronal nicotinic acetylcholine receptor subunits.
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