| Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease. | Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease.
Seefelder M, Klein FAC, Landwehrmeyer B, Fernández-Busnadiego R, Kochanek S., Free PMC Article | 09/17/2022 |
| HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis. | HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis.
Xu S, Li G, Ye X, Chen D, Chen Z, Xu Z, Daniele M, Tambone S, Ceccacci A, Tomei L, Ye L, Yu Y, Solbach A, Farmer SM, Stimming EF, McAllister G, Marchionini DM, Zhang S., Free PMC Article | 07/30/2022 |
| HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease. | HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease.
Huang B, Seefelder M, Buck E, Engler T, Lindenberg KS, Klein F, Landwehrmeyer GB, Kochanek S. | 02/12/2022 |
| Pathological polyQ expansion does not alter the conformation of the Huntingtin-HAP40 complex. | Pathological polyQ expansion does not alter the conformation of the Huntingtin-HAP40 complex.
Huang B, Guo Q, Niedermeier ML, Cheng J, Engler T, Maurer M, Pautsch A, Baumeister W, Stengel F, Kochanek S, Fernández-Busnadiego R. | 01/15/2022 |
| Orientations for FVIIIa are identified that bind to the membrane surface and support a new interaction between the A3 domain and the membrane, probably mediated in part by Arg(1719) and Arg(1721) | Molecular orientation of factor VIIIa on the phospholipid membrane surface determined by fluorescence resonance energy transfer.
Wakabayashi H, Fay PJ., Free PMC Article | 07/6/2013 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium., Free PMC Article | 09/15/2010 |
| Protein S enhances the tissue factor pathway inhibitor inhibition of factor Xa but not its inhibition of factor VIIa-tissue factor | Protein S enhances the tissue factor pathway inhibitor inhibition of factor Xa but not its inhibition of factor VIIa-tissue factor.
Ndonwi M, Broze G Jr. | 01/21/2010 |
| analysis of the residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa | Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa.
Wakabayashi H, Fay PJ., Free PMC Article | 01/21/2010 |
| The mutation Arg489Ala/Arg490Ala/Lys493Ala (489-3A) possessed near-normal affinity for FIXa and showed no effect on the Km for Factor X. | Clustered basic residues within segment 484-510 of the factor VIIIa A2 subunit contribute to the catalytic efficiency for factor Xa generation.
Jenkins PV, Dill JL, Zhou Q, Fay PJ. | 01/21/2010 |
| cupredoxin-like A1 subdomains in fVIII contain inter-species differences that are a result of selective pressure on the dissociation rate constant | A1 subunit-mediated regulation of thrombin-activated factor VIII A2 subunit dissociation.
Parker ET, Doering CB, Lollar P. | 01/21/2010 |