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Robert Mahley, MD, PhD

Title(s)Professor, Pathology
SchoolSchool of Medicine
Phone415-734-2062
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    Collapse Overview 
    Collapse Overview
    Areas of Investigation
    The major focus of our laboratory is to elucidate the function of apolipoprotein (apo) E in both cardiovascular disease and neurobiology. We are especially interested in determining the basis of the differential effects of the apoE isoforms (apoE2, E3, and E4) in neuronal repair/remodeling, in neuroprotection, and in defining how apoE4 causes neuropathology.

    Significance
    ApoE is produced in abundance in the brain and serves as the principal lipid transport vehicle in cerebrospinal fluid. ApoE4 is a major gene associated with 60–70% of cases of sporadic and familial Alzheimer’s disease. ApoE4 increases the occurrence and lowers the age of onset of Alzheimer’s disease and is also associated with poor clinical outcome in patients with traumatic brain injury. Defining the effects of the three apoE isoforms on the structure and function of the brain is providing crucial insights into the contribution of apoE4 to neurological disease, and providing a way forward for treating Alzheimer’s disease and other apoE4-associated neurodegenerative disorders.

    Approaches
    We use biophysical techniques in combination with cell and molecular biology, and transgenic and gene knockout mice to study the molecular mechanisms involving apoE in normal development and disease, including Alzheimer’s disease and other neurodegenerative diseases. Medicinal chemistry is used to identify small molecules that modulate the structure of the apoE4.

    Contributions
    My laboratory described apoE’s receptor ligand function, determined its protein and gene sequences, mapped the amino acid residues involved in receptor binding, and defined the three-dimensional structure of the ligand-binding domain. Understanding the structure and function of apoE laid the groundwork for the recent explosion of studies concerning apoE4 and Alzheimer’s disease. My laboratory was involved in describing the role of apoE in lipid transport in the nervous system, modulation of mitochondrial activity, and cytoskeletal stability involving normal and pathological CNS metabolism. By establishing brain-specific apoE transgenic mice, we demonstrated detrimental effects on apoE4 on the central nervous system in vivo and described a mechanism whereby apoE4 is involved in neuropathology.

    Research Summary
    Apolipoprotein (apo) E was initially described as a lipid transport protein and major ligand for low density lipoprotein (LDL) receptors with a role in cholesterol metabolism and cardiovascular disease. It has since emerged as a major risk factor (causative gene) for Alzheimer’s disease and other neurodegenerative disorders. Detailed understanding of the structural features of the three isoforms (apoE2, apoE3, and apoE4), which differ by only a single amino acid interchange, has elucidated their unique functions. ApoE2 and apoE4 increase the risk for heart disease: apoE2 increases atherogenic lipoprotein levels (it binds poorly to LDL receptors) and apoE4 increases LDL levels (it binds preferentially to triglyceride-rich, very low density lipoproteins, leading to downregulation of LDL receptors). ApoE4 also increases the risk for neurodegenerative diseases, decreases their age of onset, or alters their progression. ApoE4 likely causes neurodegeneration secondary to its abnormal structure, caused by an interaction between its carboxyl- and amino-terminal domains, called domain interaction. When neurons are stressed or injured, they synthesize apoE to redistribute cholesterol for neuronal repair or remodeling. However, because of its altered structure, neuronal apoE4 undergoes neuron-specific proteolysis, generating neurotoxic fragments (12–29-kDa) that escape the secretory pathway and cause mitochondrial dysfunction and cytoskeletal alterations, including tau phosphorylation. ApoE4-associated pathology can be prevented by small-molecule structure correctors that block domain interaction by converting apoE4 to a molecule that resembles apoE3 both structurally and functionally. Structure correctors are a potential therapeutic approach to reduce apoE4 pathology in both cardiovascular and neurological disorders.

    Collapse Research 
    Collapse Research Activities and Funding
    Develop GABAergic Neuron Protectors for Treating ApoE4-Related Alzheimer's Disease
    NIH/NIA R44AG063691May 1, 2019 - Oct 31, 2019
    Role: Principal Investigator
    Apolipoprotein E and Alzheimer's Disease: Mitochondrial Dysfunction and Neurodegeneration
    NIH/NIA R56AG057932Sep 30, 2018 - Aug 31, 2019
    Role: Principal Investigator
    ApoE2 and Alzheimer's Disease: Structural and Functional Roles in CNS Metabolism
    NIH/NIA R56AG056307Sep 1, 2018 - Aug 31, 2019
    Role: Principal Investigator
    Somatostatin (SST)-GABAergic Interneuron Therapy for Alzheimer's Disease with ApoE4
    NIH/NIA R44AG060873Sep 1, 2018 - Feb 28, 2019
    Role: Principal Investigator
    Targeting ApoE4 as a Therapeutic Strategy for Alzheimer's Disease
    NIH/NIA U01AG043394Sep 30, 2012 - Aug 31, 2017
    Role: Principal Investigator
    ApoE4 Structure Correctors as a Therapeutic Approach for Alzheimers Disease
    NIH/NIDA R03DA034595May 1, 2012 - Apr 30, 2014
    Role: Principal Investigator
    Role of apoE structure and metabolism in neurodegeneration
    NIH/NIA R01AG028793Mar 1, 2008 - Feb 28, 2014
    Role: Principal Investigator
    EXTRAMULAR RESEARCH FACILITIES CONSTRUCTION
    NIH/NCRR C06RR018928Sep 15, 2003 - Sep 14, 2005
    Role: Principal Investigator
    Targeting Apolipoprotein E4-related Neuropathology
    NIH/NINDS R21NS046465Jul 1, 2003 - Jun 30, 2006
    Role: Principal Investigator
    Genetic Determinants: Low HDL, High Triglycerides, Obes*
    NIH/NHLBI R01HL071027Apr 1, 2002 - Mar 31, 2004
    Role: Principal Investigator
    GENETIC ALTERATIONS ON LIPOPROTEINS AND ATHEROSCLEROSIS
    NIH/NHLBI P01HL047660Sep 30, 1992 - Aug 31, 2003
    Role: Principal Investigator
    SMALL INSTRUMENTATION GRANT
    NIH/NHLBI S15HL049381Sep 1, 1992 - Aug 31, 1993
    Role: Principal Investigator
    LIPOPROTEIN STRUCTURE/FUNCTION IN CHOLESTEROL METABOLISM
    NIH/NHLBI P01HL041633Feb 1, 1989 - Jan 31, 2005
    Role: Co-Principal Investigator
    NHLBI SHARED RESEARCH FACILITY FOR MOLECULAR BIOLOGY
    NIH/NHLBI C06HL039962Sep 30, 1987 - Sep 29, 1993
    Role: Principal Investigator
    BIOMEDICAL RESEARCH SUPPORT GRANT
    NIH/NCRR S07RR005880Apr 1, 1983 - Sep 29, 1992
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse In The News
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    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Orr AL, Kim C, Jimenez-Morales D, Newton BW, Johnson JR, Krogan NJ, Swaney DL, Mahley RW. Neuronal Apolipoprotein E4 Expression Results in Proteome-Wide Alterations and Compromises Bioenergetic Capacity by Disrupting Mitochondrial Function. J Alzheimers Dis. 2019 Mar 11. PMID: 30883359.
      View in: PubMed
    2. Mahley RW. Apolipoprotein E: Remarkable Protein Sheds Light on Cardiovascular and Neurological Diseases. Clin Chem. 2017 Jan; 63(1):14-20. PMID: 28062606.
      View in: PubMed
    3. Mallick S, Li H, Lipson M, Mathieson I, Gymrek M, Racimo F, Zhao M, Chennagiri N, Nordenfelt S, Tandon A, Skoglund P, Lazaridis I, Sankararaman S, Fu Q, Rohland N, Renaud G, Erlich Y, Willems T, Gallo C, Spence JP, Song YS, Poletti G, Balloux F, van Driem G, de Knijff P, Romero IG, Jha AR, Behar DM, Bravi CM, Capelli C, Hervig T, Moreno-Estrada A, Posukh OL, Balanovska E, Balanovsky O, Karachanak-Yankova S, Sahakyan H, Toncheva D, Yepiskoposyan L, Tyler-Smith C, Xue Y, Abdullah MS, Ruiz-Linares A, Beall CM, Di Rienzo A, Jeong C, Starikovskaya EB, Metspalu E, Parik J, Villems R, Henn BM, Hodoglugil U, Mahley R, Sajantila A, Stamatoyannopoulos G, Wee JT, Khusainova R, Khusnutdinova E, Litvinov S, Ayodo G, Comas D, Hammer MF, Kivisild T, Klitz W, Winkler CA, Labuda D, Bamshad M, Jorde LB, Tishkoff SA, Watkins WS, Metspalu M, Dryomov S, Sukernik R, Singh L, Thangaraj K, Pääbo S, Kelso J, Patterson N, Reich D. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature. 2016 Oct 13; 538(7624):201-206. PMID: 27654912.
      View in: PubMed
    4. Mahley RW. Apolipoprotein E: from cardiovascular disease to neurodegenerative disorders. J Mol Med (Berl). 2016 07; 94(7):739-46. PMID: 27277824; PMCID: PMC4921111.
    5. Mahley RW. Central Nervous System Lipoproteins: ApoE and Regulation of Cholesterol Metabolism. Arterioscler Thromb Vasc Biol. 2016 07; 36(7):1305-15. PMID: 27174096.
      View in: PubMed
    6. Lazaridis I, Patterson N, Mittnik A, Renaud G, Mallick S, Kirsanow K, Sudmant PH, Schraiber JG, Castellano S, Lipson M, Berger B, Economou C, Bollongino R, Fu Q, Bos KI, Nordenfelt S, Li H, de Filippo C, Prüfer K, Sawyer S, Posth C, Haak W, Hallgren F, Fornander E, Rohland N, Delsate D, Francken M, Guinet JM, Wahl J, Ayodo G, Babiker HA, Bailliet G, Balanovska E, Balanovsky O, Barrantes R, Bedoya G, Ben-Ami H, Bene J, Berrada F, Bravi CM, Brisighelli F, Busby GB, Cali F, Churnosov M, Cole DE, Corach D, Damba L, van Driem G, Dryomov S, Dugoujon JM, Fedorova SA, Gallego Romero I, Gubina M, Hammer M, Henn BM, Hervig T, Hodoglugil U, Jha AR, Karachanak-Yankova S, Khusainova R, Khusnutdinova E, Kittles R, Kivisild T, Klitz W, Kucinskas V, Kushniarevich A, Laredj L, Litvinov S, Loukidis T, Mahley RW, Melegh B, Metspalu E, Molina J, Mountain J, Näkkäläjärvi K, Nesheva D, Nyambo T, Osipova L, Parik J, Platonov F, Posukh O, Romano V, Rothhammer F, Rudan I, Ruizbakiev R, Sahakyan H, Sajantila A, Salas A, Starikovskaya EB, Tarekegn A, Toncheva D, Turdikulova S, Uktveryte I, Utevska O, Vasquez R, Villena M, Voevoda M, Winkler CA, Yepiskoposyan L, Zalloua P, Zemunik T, Cooper A, Capelli C, Thomas MG, Ruiz-Linares A, Tishkoff SA, Singh L, Thangaraj K, Villems R, Comas D, Sukernik R, Metspalu M, Meyer M, Eichler EE, Burger J, Slatkin M, Pääbo S, Kelso J, Reich D, Krause J. Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature. 2014 Sep 18; 513(7518):409-13. PMID: 25230663; PMCID: PMC4170574.
    7. Huang Y, Mahley RW. Apolipoprotein E: structure and function in lipid metabolism, neurobiology, and Alzheimer's diseases. Neurobiol Dis. 2014 Dec; 72 Pt A:3-12. PMID: 25173806; PMCID: PMC4253862.
    8. Mahley RW. Shinya Yamanaka, M.D., Ph.D. - 2012 Nobel Prize Laureate: how his dream of a research career provides vision for the next generation of young scientists. Anadolu Kardiyol Derg. 2013 May; 13(3):204-6. PMID: 23618992.
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    9. Mahley RW, Huang Y. Apolipoprotein e sets the stage: response to injury triggers neuropathology. Neuron. 2012 Dec 06; 76(5):871-85. PMID: 23217737; PMCID: PMC4891195.
    10. Mahley RW, Huang Y. Small-molecule structure correctors target abnormal protein structure and function: structure corrector rescue of apolipoprotein E4-associated neuropathology. J Med Chem. 2012 Nov 08; 55(21):8997-9008. PMID: 23013167; PMCID: PMC4904786.
    11. Naylor MD, Karlawish JH, Arnold SE, Khachaturian AS, Khachaturian ZS, Lee VM, Baumgart M, Banerjee S, Beck C, Blennow K, Brookmeyer R, Brunden KR, Buckwalter KC, Comer M, Covinsky K, Feinberg LF, Frisoni G, Green C, Guimaraes RM, Gwyther LP, Hefti FF, Hutton M, Kawas C, Kent DM, Kuller L, Langa KM, Mahley RW, Maslow K, Masters CL, Meier DE, Neumann PJ, Paul SM, Petersen RC, Sager MA, Sano M, Schenk D, Soares H, Sperling RA, Stahl SM, van Deerlin V, Stern Y, Weir D, Wolk DA, Trojanowski JQ. Advancing Alzheimer's disease diagnosis, treatment, and care: recommendations from the Ware Invitational Summit. Alzheimers Dement. 2012 Sep; 8(5):445-52. PMID: 22959699.
      View in: PubMed
    12. Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, Beekman M, Coassin S, Lohman K, Qi L, Kanoni S, Pankow JS, Uh HW, Wu Y, Bidulescu A, Rasmussen-Torvik LJ, Greenwood CM, Ladouceur M, Grimsby J, Manning AK, Liu CT, Kooner J, Mooser VE, Vollenweider P, Kapur KA, Chambers J, Wareham NJ, Langenberg C, Frants R, Willems-Vandijk K, Oostra BA, Willems SM, Lamina C, Winkler TW, Psaty BM, Tracy RP, Brody J, Chen I, Viikari J, Kähönen M, Pramstaller PP, Evans DM, St Pourcain B, Sattar N, Wood AR, Bandinelli S, Carlson OD, Egan JM, Böhringer S, van Heemst D, Kedenko L, Kristiansson K, Nuotio ML, Loo BM, Harris T, Garcia M, Kanaya A, Haun M, Klopp N, Wichmann HE, Deloukas P, Katsareli E, Couper DJ, Duncan BB, Kloppenburg M, Adair LS, Borja JB, Wilson JG, Musani S, Guo X, Johnson T, Semple R, Teslovich TM, Allison MA, Redline S, Buxbaum SG, Mohlke KL, Meulenbelt I, Ballantyne CM, Dedoussis GV, Hu FB, Liu Y, Paulweber B, Spector TD, Slagboom PE, Ferrucci L, Jula A, Perola M, Raitakari O, Florez JC, Salomaa V, Eriksson JG, Frayling TM, Hicks AA, Lehtimäki T, Smith GD, Siscovick DS, Kronenberg F, van Duijn C, Loos RJ, Waterworth DM, Meigs JB, Dupuis J, Richards JB, Voight BF, Scott LJ, Steinthorsdottir V, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Hofmann OM, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Boström KB, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet-Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Morris AD, Palmer CN, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Pedersen O, Barroso I, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI, Soranzo N, Wheeler E, Glazer NL, Bouatia-Naji N, Mägi R, Randall J, Elliott P, Rybin D, Dehghan A, Hottenga JJ, Song K, Goel A, Lajunen T, Doney A, Cavalcanti-Proença C, Kumari M, Timpson NJ, Zabena C, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA, Roccasecca RM, Pattou F, Sethupathy P, Ariyurek Y, Barter P, Beilby JP, Ben-Shlomo Y, Bergmann S, Bochud M, Bonnefond A, Borch-Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Crisponi L, Day IN, de Geus EJ, Delplanque J, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Grundy S, Gwilliam R, Hallmans G, Hammond N, Han X, Hartikainen AL, Hayward C, Heath SC, Hercberg S, Hillman DR, Hingorani AD, Hui J, Hung J, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Mahley R, Mangino M, Martínez-Larrad MT, McAteer JB, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Mukherjee S, Naitza S, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet. 2012; 8(3):e1002607. PMID: 22479202.
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    13. Hodoglugil U, Mahley RW. Turkish population structure and genetic ancestry reveal relatedness among Eurasian populations. Ann Hum Genet. 2012 Mar; 76(2):128-41. PMID: 22332727; PMCID: PMC4904778.
    14. Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, An SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, Talbert ME, Lewis JP, Ferrara A, Lu L, Ziegler JT, Sale MM, Divers J, Shriner D, Adeyemo A, Rotimi CN, Ng MC, Langefeld CD, Freedman BI, Bowden DW, Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Langenberg C, Hofmann OM, Dupuis J, Qi L, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Boström KB, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Couper DJ, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Klopp N, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Perry JR, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet-Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Mohlke KL, Morris AD, Palmer CN, Pramstaller PP, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Wareham NJ, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Hu FB, Meigs JB, Pankow JS, Pedersen O, Wichmann HE, Barroso I, Florez JC, Frayling TM, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI, Soranzo N, Wheeler E, Glazer NL, Bouatia-Naji N, Mägi R, Randall J, Johnson T, Elliott P, Rybin D, Henneman P, Dehghan A, Hottenga JJ, Song K, Goel A, Egan JM, Lajunen T, Doney A, Kanoni S, Cavalcanti-Proença C, Kumari M, Timpson NJ, Zabena C, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA, Roccasecca RM, Pattou F, Sethupathy P, Ariyurek Y, Barter P, Beilby JP, Ben-Shlomo Y, Bergmann S, Bochud M, Bonnefond A, Borch-Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Crisponi L, Day IN, de Geus EJ, Delplanque J, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Grundy S, Gwilliam R, Hallmans G, Hammond N, Han X, Hartikainen AL, Hayward C, Heath SC, Hercberg S, Hicks AA, Hillman DR, Hingorani AD, Hui J, Hung J, Jula A, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Mahley R, Mangino M, Manning AK, Martínez-Larrad MT, McAteer JB, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Mukherjee S, Naitza S, Neville MJ, Oostra BA, Orrù M, Pakyz R, Paolisso G, Pattaro C, Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I, Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM, Rayner NW, Rice K, Ripatti S, Rivadeneira F, Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P, Seedorf U, Sharp SJ, Shields B, Sijbrands EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A, Syddall H, Syvänen AC, Tanaka T, Tönjes A, Uitterlinden AG, van Dijk KW, Varma D, Visvikis-Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ, Walley A, Ward KL, Watkins H, Wild SH, Willemsen G, Witteman JC, Yarnell JW, Zelenika D, Zethelius B, Zhai G, Zhao JH, Zillikens MC, Borecki IB, Loos RJ, Meneton P, Magnusson PK, Nathan DM, Williams GH, Silander K, et al. A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One. 2012; 7(1):e29202. PMID: 22238593.
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    15. Chen HK, Liu Z, Meyer-Franke A, Brodbeck J, Miranda RD, McGuire JG, Pleiss MA, Ji ZS, Balestra ME, Walker DW, Xu Q, Jeong DE, Budamagunta MS, Voss JC, Freedman SB, Weisgraber KH, Huang Y, Mahley RW. Small molecule structure correctors abolish detrimental effects of apolipoprotein E4 in cultured neurons. J Biol Chem. 2012 Feb 17; 287(8):5253-66. PMID: 22158868; PMCID: PMC3285306.
    16. Hodoglugil U, Williamson DW, Yu Y, Farrer LA, Mahley RW. Glucuronic acid epimerase is associated with plasma triglyceride and high-density lipoprotein cholesterol levels in Turks. Ann Hum Genet. 2011 May; 75(3):398-417. PMID: 21488854; PMCID: PMC3538863.
    17. Brodbeck J, McGuire J, Liu Z, Meyer-Franke A, Balestra ME, Jeong DE, Pleiss M, McComas C, Hess F, Witter D, Peterson S, Childers M, Goulet M, Liverton N, Hargreaves R, Freedman S, Weisgraber KH, Mahley RW, Huang Y. Structure-dependent impairment of intracellular apolipoprotein E4 trafficking and its detrimental effects are rescued by small-molecule structure correctors. J Biol Chem. 2011 May 13; 286(19):17217-26. PMID: 21454574; PMCID: PMC3089564.
    18. Chen HK, Ji ZS, Dodson SE, Miranda RD, Rosenblum CI, Reynolds IJ, Freedman SB, Weisgraber KH, Huang Y, Mahley RW. Apolipoprotein E4 domain interaction mediates detrimental effects on mitochondria and is a potential therapeutic target for Alzheimer disease. J Biol Chem. 2011 Feb 18; 286(7):5215-21. PMID: 21118811; PMCID: PMC3037634.
    19. Waterworth DM, Ricketts SL, Song K, Chen L, Zhao JH, Ripatti S, Aulchenko YS, Zhang W, Yuan X, Lim N, Luan J, Ashford S, Wheeler E, Young EH, Hadley D, Thompson JR, Braund PS, Johnson T, Struchalin M, Surakka I, Luben R, Khaw KT, Rodwell SA, Loos RJ, Boekholdt SM, Inouye M, Deloukas P, Elliott P, Schlessinger D, Sanna S, Scuteri A, Jackson A, Mohlke KL, Tuomilehto J, Roberts R, Stewart A, Kesäniemi YA, Mahley RW, Grundy SM, McArdle W, Cardon L, Waeber G, Vollenweider P, Chambers JC, Boehnke M, Abecasis GR, Salomaa V, Järvelin MR, Ruokonen A, Barroso I, Epstein SE, Hakonarson HH, Rader DJ, Reilly MP, Witteman JC, Hall AS, Samani NJ, Strachan DP, Barter P, van Duijn CM, Kooner JS, Peltonen L, Wareham NJ, McPherson R, Mooser V, Sandhu MS. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arterioscler Thromb Vasc Biol. 2010 Nov; 30(11):2264-76. PMID: 20864672.
      View in: PubMed
    20. Liu JZ, Tozzi F, Waterworth DM, Pillai SG, Muglia P, Middleton L, Berrettini W, Knouff CW, Yuan X, Waeber G, Vollenweider P, Preisig M, Wareham NJ, Zhao JH, Loos RJ, Barroso I, Khaw KT, Grundy S, Barter P, Mahley R, Kesaniemi A, McPherson R, Vincent JB, Strauss J, Kennedy JL, Farmer A, McGuffin P, Day R, Matthews K, Bakke P, Gulsvik A, Lucae S, Ising M, Brueckl T, Horstmann S, Wichmann HE, Rawal R, Dahmen N, Lamina C, Polasek O, Zgaga L, Huffman J, Campbell S, Kooner J, Chambers JC, Burnett MS, Devaney JM, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Epstein S, Wilson JF, Wild SH, Campbell H, Vitart V, Reilly MP, Li M, Qu L, Wilensky R, Matthai W, Hakonarson HH, Rader DJ, Franke A, Wittig M, Schäfer A, Uda M, Terracciano A, Xiao X, Busonero F, Scheet P, Schlessinger D, St Clair D, Rujescu D, Abecasis GR, Grabe HJ, Teumer A, Völzke H, Petersmann A, John U, Rudan I, Hayward C, Wright AF, Kolcic I, Wright BJ, Thompson JR, Balmforth AJ, Hall AS, Samani NJ, Anderson CA, Ahmad T, Mathew CG, Parkes M, Satsangi J, Caulfield M, Munroe PB, Farrall M, Dominiczak A, Worthington J, Thomson W, Eyre S, Barton A, Mooser V, Francks C, Marchini J. Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet. 2010 May; 42(5):436-40. PMID: 20418889.
      View in: PubMed
    21. Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, Elliott P, Rybin D, Thorleifsson G, Steinthorsdottir V, Henneman P, Grallert H, Dehghan A, Hottenga JJ, Franklin CS, Navarro P, Song K, Goel A, Perry JR, Egan JM, Lajunen T, Grarup N, Sparsø T, Doney A, Voight BF, Stringham HM, Li M, Kanoni S, Shrader P, Cavalcanti-Proença C, Kumari M, Qi L, Timpson NJ, Gieger C, Zabena C, Rocheleau G, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA, Payne F, Roccasecca RM, Pattou F, Sethupathy P, Ardlie K, Ariyurek Y, Balkau B, Barter P, Beilby JP, Ben-Shlomo Y, Benediktsson R, Bennett AJ, Bergmann S, Bochud M, Boerwinkle E, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Charpentier G, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Cornelis M, Crawford G, Crisponi L, Day IN, de Geus EJ, Delplanque J, Dina C, Erdos MR, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Fox CS, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Groves CJ, Grundy S, Gwilliam R, Gyllensten U, Hadjadj S, Hallmans G, Hammond N, Han X, Hartikainen AL, Hassanali N, Hayward C, Heath SC, Hercberg S, Herder C, Hicks AA, Hillman DR, Hingorani AD, Hofman A, Hui J, Hung J, Isomaa B, Johnson PR, Jørgensen T, Jula A, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Lyssenko V, Mahley R, Mangino M, Manning AK, Martínez-Larrad MT, McAteer JB, McCulloch LJ, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Morken MA, Mukherjee S, Naitza S, Narisu N, Neville MJ, Oostra BA, Orrù M, Pakyz R, Palmer CN, Paolisso G, Pattaro C, Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I, Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM, Rathmann W, Rayner NW, Rice K, Ripatti S, Rivadeneira F, Roden M, Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P, Scott LJ, Seedorf U, Sharp SJ, Shields B, Sigurethsson G, Sijbrands EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A, Syddall H, Syvänen AC, Tanaka T, Thorand B, Tichet J, Tönjes A, Tuomi T, Uitterlinden AG, van Dijk KW, van Hoek M, Varma D, Visvikis-Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ, Walley A, Walters GB, Ward KL, Watkins H, Weedon MN, Wild SH, Willemsen G, Witteman JC, Yarnell JW, Zeggini E, Zelenika D, Zethelius B, Zhai G, Zhao JH, Zillikens MC, Borecki IB, Loos RJ, Meneton P, Magnusson PK, Nathan DM, Williams GH, Hattersley AT, Silander K, Salomaa V, Smith GD, Bornstein SR, Schwarz P, Spranger J, Karpe F, Shuldiner AR, Cooper C, Dedoussis GV, Serrano-Ríos M, Morris AD, Lind L, Palmer LJ, Hu FB, Franks PW, Ebrahim S, Marmot M, Kao WH, Pankow JS, Sampson MJ, Kuusisto J, Laakso M, Hansen T, Pedersen O, Pramstaller PP, Wichmann HE, Illig T, Rudan I, Wright AF, Stumvoll M, Campbell H, Wilson JF, Bergman RN, Buchanan TA, Collins FS, Mohlke KL, Tuomilehto J, Valle TT, Altshuler D, Rotter JI, Siscovick DS, Penninx BW, Boomsma DI, Deloukas P, Spector TD, Frayling TM, Ferrucci L, Kong A, Thorsteinsdottir U, Stefansson K, van Duijn CM, Aulchenko YS, Cao A, Scuteri A, Schlessinger D, Uda M, Ruokonen A, Jarvelin MR, Waterworth DM, Vollenweider P, Peltonen L, Mooser V, Abecasis GR, Wareham NJ, Sladek R, Froguel P, Watanabe RM, Meigs JB, Groop L, Boehnke M, McCarthy MI, Florez JC, Barroso I. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010 Feb; 42(2):105-16. PMID: 20081858.
      View in: PubMed
    22. Richards JB, Waterworth D, O'Rahilly S, Hivert MF, Loos RJ, Perry JR, Tanaka T, Timpson NJ, Semple RK, Soranzo N, Song K, Rocha N, Grundberg E, Dupuis J, Florez JC, Langenberg C, Prokopenko I, Saxena R, Sladek R, Aulchenko Y, Evans D, Waeber G, Erdmann J, Burnett MS, Sattar N, Devaney J, Willenborg C, Hingorani A, Witteman JC, Vollenweider P, Glaser B, Hengstenberg C, Ferrucci L, Melzer D, Stark K, Deanfield J, Winogradow J, Grassl M, Hall AS, Egan JM, Thompson JR, Ricketts SL, König IR, Reinhard W, Grundy S, Wichmann HE, Barter P, Mahley R, Kesaniemi YA, Rader DJ, Reilly MP, Epstein SE, Stewart AF, Van Duijn CM, Schunkert H, Burling K, Deloukas P, Pastinen T, Samani NJ, McPherson R, Davey Smith G, Frayling TM, Wareham NJ, Meigs JB, Mooser V, Spector TD. A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. PLoS Genet. 2009 Dec; 5(12):e1000768. PMID: 20011104; PMCID: PMC2781107.
    23. Li G, Bien-Ly N, Andrews-Zwilling Y, Xu Q, Bernardo A, Ring K, Halabisky B, Deng C, Mahley RW, Huang Y. GABAergic interneuron dysfunction impairs hippocampal neurogenesis in adult apolipoprotein E4 knockin mice. Cell Stem Cell. 2009 Dec 04; 5(6):634-45. PMID: 19951691; PMCID: PMC2992822.
    24. Hodoglugil U, Williamson DW, Mahley RW. Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population. J Lipid Res. 2010 Feb; 51(2):422-30. PMID: 19734193; PMCID: PMC2803245.
    25. Mahley RW, Huang Y. Alzheimer disease: multiple causes, multiple effects of apolipoprotein E4, and multiple therapeutic approaches. Ann Neurol. 2009 Jun; 65(6):623-5. PMID: 19557874.
      View in: PubMed
    26. Ling H, Waterworth DM, Stirnadel HA, Pollin TI, Barter PJ, Kesäniemi YA, Mahley RW, McPherson R, Waeber G, Bersot TP, Cohen JC, Grundy SM, Mooser VE, Mitchell BD. Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study. Obesity (Silver Spring). 2009 Apr; 17(4):737-44. PMID: 19165155; PMCID: PMC4028785.
    27. Mahley RW, Weisgraber KH, Huang Y. Apolipoprotein E: structure determines function, from atherosclerosis to Alzheimer's disease to AIDS. J Lipid Res. 2009 Apr; 50 Suppl:S183-8. PMID: 19106071; PMCID: PMC2674716.
    28. Tanyolaç S, Mahley RW, Hodoglugil U, Goldfine ID. Gender differences in the relationship of ENPP1/PC-1 variants to obesity in a Turkish population. Obesity (Silver Spring). 2008 Nov; 16(11):2468-71. PMID: 18719658; PMCID: PMC4486356.
    29. Tamgüney G, Giles K, Glidden DV, Lessard P, Wille H, Tremblay P, Groth DF, Yehiely F, Korth C, Moore RC, Tatzelt J, Rubinstein E, Boucheix C, Yang X, Stanley P, Lisanti MP, Dwek RA, Rudd PM, Moskovitz J, Epstein CJ, Cruz TD, Kuziel WA, Maeda N, Sap J, Ashe KH, Carlson GA, Tesseur I, Wyss-Coray T, Mucke L, Weisgraber KH, Mahley RW, Cohen FE, Prusiner SB. Genes contributing to prion pathogenesis. J Gen Virol. 2008 Jul; 89(Pt 7):1777-88. PMID: 18559949; PMCID: PMC2828448.
    30. Burt TD, Agan BK, Marconi VC, He W, Kulkarni H, Mold JE, Cavrois M, Huang Y, Mahley RW, Dolan MJ, McCune JM, Ahuja SK. Apolipoprotein (apo) E4 enhances HIV-1 cell entry in vitro, and the APOE epsilon4/epsilon4 genotype accelerates HIV disease progression. Proc Natl Acad Sci U S A. 2008 Jun 24; 105(25):8718-23. PMID: 18562290; PMCID: PMC2438419.
    31. Sandhu MS, Waterworth DM, Debenham SL, Wheeler E, Papadakis K, Zhao JH, Song K, Yuan X, Johnson T, Ashford S, Inouye M, Luben R, Sims M, Hadley D, McArdle W, Barter P, Kesäniemi YA, Mahley RW, McPherson R, Grundy SM, Bingham SA, Khaw KT, Loos RJ, Waeber G, Barroso I, Strachan DP, Deloukas P, Vollenweider P, Wareham NJ, Mooser V. LDL-cholesterol concentrations: a genome-wide association study. Lancet. 2008 Feb 09; 371(9611):483-91. PMID: 18262040; PMCID: PMC2292820.
    32. Brodbeck J, Balestra ME, Saunders AM, Roses AD, Mahley RW, Huang Y. Rosiglitazone increases dendritic spine density and rescues spine loss caused by apolipoprotein E4 in primary cortical neurons. Proc Natl Acad Sci U S A. 2008 Jan 29; 105(4):1343-6. PMID: 18212130; PMCID: PMC2234140.
    33. Mahley RW, Huang Y, Weisgraber KH. Detrimental effects of apolipoprotein E4: potential therapeutic targets in Alzheimer's disease. Curr Alzheimer Res. 2007 Dec; 4(5):537-40. PMID: 18220516.
      View in: PubMed
    34. Stirnadel H, Lin X, Ling H, Song K, Barter P, Kesäniemi YA, Mahley R, McPherson R, Waeber G, Bersot T, Cohen J, Grundy S, Mitchell B, Mooser V, Waterworth D. Genetic and phenotypic architecture of metabolic syndrome-associated components in dyslipidemic and normolipidemic subjects: the GEMS Study. Atherosclerosis. 2008 Apr; 197(2):868-76. PMID: 17888929.
      View in: PubMed
    35. Barter P, McPherson YR, Song K, Kesäniemi YA, Mahley R, Waeber G, Bersot T, Mooser V, Waterworth D, Grundy SM. Serum insulin and inflammatory markers in overweight individuals with and without dyslipidemia. J Clin Endocrinol Metab. 2007 Jun; 92(6):2041-5. PMID: 17389699.
      View in: PubMed
    36. Mahley RW, Huang Y. Atherogenic remnant lipoproteins: role for proteoglycans in trapping, transferring, and internalizing. J Clin Invest. 2007 Jan; 117(1):94-8. PMID: 17200713; PMCID: PMC1716223.
    37. Safar JG, Wille H, Geschwind MD, Deering C, Latawiec D, Serban A, King DJ, Legname G, Weisgraber KH, Mahley RW, Miller BL, Dearmond SJ, Prusiner SB. Human prions and plasma lipoproteins. Proc Natl Acad Sci U S A. 2006 Jul 25; 103(30):11312-7. PMID: 16849426; PMCID: PMC1544083.
    38. Xu Q, Bernardo A, Walker D, Kanegawa T, Mahley RW, Huang Y. Profile and regulation of apolipoprotein E (ApoE) expression in the CNS in mice with targeting of green fluorescent protein gene to the ApoE locus. J Neurosci. 2006 May 10; 26(19):4985-94. PMID: 16687490.
      View in: PubMed
    39. Mahley RW, Huang Y, Weisgraber KH. Putting cholesterol in its place: apoE and reverse cholesterol transport. J Clin Invest. 2006 May; 116(5):1226-9. PMID: 16670767; PMCID: PMC1451226.
    40. Huang Y, Mahley RW. Commentary on "Perspective on a pathogenesis and treatment of Alzheimer's disease." Apolipoprotein E and the mitochondrial metabolic hypothesis. Alzheimers Dement. 2006 Apr; 2(2):71-3. PMID: 19595858.
      View in: PubMed
    41. Mahley RW, Weisgraber KH, Huang Y. Apolipoprotein E4: a causative factor and therapeutic target in neuropathology, including Alzheimer's disease. Proc Natl Acad Sci U S A. 2006 Apr 11; 103(15):5644-51. PMID: 16567625; PMCID: PMC1414631.
    42. Mahley RW, Bersot TP. High density lipoprotein cholesterol in coronary artery patients: is it as low as expected? Anadolu Kardiyol Derg. 2006 Mar; 6(1):94-6; author reply 96. PMID: 16524816.
      View in: PubMed
    43. Hodoglugil U, Mahley RW. Smoking and obesity make a bad problem worse: genetics and lifestyle affect high density lipoprotein levels in Turks. Anadolu Kardiyol Derg. 2006 Mar; 6(1):60-7. PMID: 16524804.
      View in: PubMed
    44. Ye S, Huang Y, Müllendorff K, Dong L, Giedt G, Meng EC, Cohen FE, Kuntz ID, Weisgraber KH, Mahley RW. Apolipoprotein (apo) E4 enhances amyloid beta peptide production in cultured neuronal cells: apoE structure as a potential therapeutic target. Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51):18700-5. PMID: 16344478; PMCID: PMC1311738.
    45. Chang S, ran Ma T, Miranda RD, Balestra ME, Mahley RW, Huang Y. Lipid- and receptor-binding regions of apolipoprotein E4 fragments act in concert to cause mitochondrial dysfunction and neurotoxicity. Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51):18694-9. PMID: 16344479; PMCID: PMC1311737.
    46. Ji ZS, Müllendorff K, Cheng IH, Miranda RD, Huang Y, Mahley RW. Reactivity of apolipoprotein E4 and amyloid beta peptide: lysosomal stability and neurodegeneration. J Biol Chem. 2006 Feb 03; 281(5):2683-92. PMID: 16298992.
      View in: PubMed
    47. Hodoglugil U, Tanyolaç S, Williamson DW, Huang Y, Mahley RW. Apolipoprotein A-V: a potential modulator of plasma triglyceride levels in Turks. J Lipid Res. 2006 Jan; 47(1):144-53. PMID: 16258166.
      View in: PubMed
    48. Mahley RW, Can S, Ozbayrakçi S, Bersot TP, Tanir S, Palaoglu KE, Pépin GM. Modulation of high-density lipoproteins in a population in istanbul, Turkey, with low levels of high-density lipoproteins. Am J Cardiol. 2005 Aug 15; 96(4):547-55. PMID: 16098310.
      View in: PubMed
    49. Yu Y, Wyszynski DF, Waterworth DM, Wilton SD, Barter PJ, Kesäniemi YA, Mahley RW, McPherson R, Waeber G, Bersot TP, Ma Q, Sharma SS, Montgomery DS, Middleton LT, Sundseth SS, Mooser V, Grundy SM, Farrer LA. Multiple QTLs influencing triglyceride and HDL and total cholesterol levels identified in families with atherogenic dyslipidemia. J Lipid Res. 2005 Oct; 46(10):2202-13. PMID: 16061952.
      View in: PubMed
    50. Hodoglugil U, Williamson DW, Huang Y, Mahley RW. Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein cholesterol levels in Turks. Atherosclerosis. 2005 Dec; 183(2):199-212. PMID: 15935359.
      View in: PubMed
    51. Wyszynski DF, Waterworth DM, Barter PJ, Cohen J, Kesäniemi YA, Mahley RW, McPherson R, Waeber G, Bersot TP, Sharma SS, Nolan V, Middleton LT, Sundseth SS, Farrer LA, Mooser V, Grundy SM. Relation between atherogenic dyslipidemia and the Adult Treatment Program-III definition of metabolic syndrome (Genetic Epidemiology of Metabolic Syndrome Project). Am J Cardiol. 2005 Jan 15; 95(2):194-8. PMID: 15642551.
      View in: PubMed
    52. Harris FM, Brecht WJ, Xu Q, Mahley RW, Huang Y. Increased tau phosphorylation in apolipoprotein E4 transgenic mice is associated with activation of extracellular signal-regulated kinase: modulation by zinc. J Biol Chem. 2004 Oct 22; 279(43):44795-801. PMID: 15322121.
      View in: PubMed
    53. Xu Q, Brecht WJ, Weisgraber KH, Mahley RW, Huang Y. Apolipoprotein E4 domain interaction occurs in living neuronal cells as determined by fluorescence resonance energy transfer. J Biol Chem. 2004 Jun 11; 279(24):25511-6. PMID: 15054100.
      View in: PubMed
    54. Brecht WJ, Harris FM, Chang S, Tesseur I, Yu GQ, Xu Q, Dee Fish J, Wyss-Coray T, Buttini M, Mucke L, Mahley RW, Huang Y. Neuron-specific apolipoprotein e4 proteolysis is associated with increased tau phosphorylation in brains of transgenic mice. J Neurosci. 2004 Mar 10; 24(10):2527-34. PMID: 15014128.
      View in: PubMed
    55. Huang Y, Weisgraber KH, Mucke L, Mahley RW. Apolipoprotein E: diversity of cellular origins, structural and biophysical properties, and effects in Alzheimer's disease. J Mol Neurosci. 2004; 23(3):189-204. PMID: 15181247.
      View in: PubMed
    56. Bersot TP, Pépin GM, Mahley RW. Risk determination of dyslipidemia in populations characterized by low levels of high-density lipoprotein cholesterol. Am Heart J. 2003 Dec; 146(6):1052-9. PMID: 14660998.
      View in: PubMed
    57. Harris FM, Tesseur I, Brecht WJ, Xu Q, Mullendorff K, Chang S, Wyss-Coray T, Mahley RW, Huang Y. Astroglial regulation of apolipoprotein E expression in neuronal cells. Implications for Alzheimer's disease. J Biol Chem. 2004 Jan 30; 279(5):3862-8. PMID: 14585838.
      View in: PubMed
    58. Harris FM, Brecht WJ, Xu Q, Tesseur I, Kekonius L, Wyss-Coray T, Fish JD, Masliah E, Hopkins PC, Scearce-Levie K, Weisgraber KH, Mucke L, Mahley RW, Huang Y. Carboxyl-terminal-truncated apolipoprotein E4 causes Alzheimer's disease-like neurodegeneration and behavioral deficits in transgenic mice. Proc Natl Acad Sci U S A. 2003 Sep 16; 100(19):10966-71. PMID: 12939405; PMCID: PMC196910.
    59. Bersot TP, Palaoglu KE, Mahley RW. Managing dyslipidemia in Turkey: suggested guidelines for a population characterized by low levels of high density lipoprotein cholesterol. Anadolu Kardiyol Derg. 2002 Dec; 2(4):315-22. PMID: 12460830.
      View in: PubMed
    60. Shohet RV, Vega GL, Bersot TP, Mahley RW, Grundy SM, Guerra R, Cohen JC. Sources of variability in genetic association studies: insights from the analysis of hepatic lipase (LIPC). Hum Mutat. 2002 May; 19(5):536-42. PMID: 11968086.
      View in: PubMed
    61. Ji ZS, Miranda RD, Newhouse YM, Weisgraber KH, Huang Y, Mahley RW. Apolipoprotein E4 potentiates amyloid beta peptide-induced lysosomal leakage and apoptosis in neuronal cells. J Biol Chem. 2002 Jun 14; 277(24):21821-8. PMID: 11912196.
      View in: PubMed