Results 41 to 50 of about 12,273 (193)

First person – Jorge Rodriguez-Gil

Disease Models & Mechanisms, 2020
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations [PDF]

, 2016
PURPOSE: Predicting the phenotypic effects of mutations has become an important application in clinical genetic diagnostics. Computational tools evaluate the behavior of the variant over evolutionary time and assume that variations seen during the course
Alexander O. Reznik, CA Wassif, Daniel S. Ory, DE Sleat, DM Jordan, F Chang, FD Porter, GR Oliver, H Börnig, H Jahnova, HJ Kwon, HR Davis Jr, IA Adzhubei, Igor B. Zhulin, JA Tennessen, JD Retief, JE Dickerson, JM White, K Katoh, KA King, M Lynch, M Stampfer, MC Patterson, MT Vanier, MT Vanier, MT Vanier, NO Stitziel, O Adebali, Ogun Adebali, PC Ng, PC Ng, RD Finn, S Castellana, S Guindon, S Nusca, SB Ng, SF Altschul, SH Katsanis, SR Sunyaev, U Omasits, X Jiang, X Yan, Y Choi, Z Wang   +43 more
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Apolipoprotein E genotype and neurological disease onset in Niemann–Pick disease, type C1 [PDF]

American Journal of Medical Genetics Part A, 2012
AbstractNiemann–Pick disease, type C1 (NPC1) is a lipid storage disorder that results in progressive neurological impairment. The NPC1 phenotype is extremely variable and at the individual level is likely influenced by other genetic traits. In addition to residual function of NPC1 protein, we hypothesize that modifier genes, as frequently observed with
Fu, Rao, Yanjanin, Nicole M., Elrick, Matthew J., Ware, Christopher, Lieberman, Andrew P., Porter, Forbes D.   +5 more
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Ezetimibe therapy: mechanism of action and clinical update. [PDF]

, 2012
The lowering of low-density lipoprotein cholesterol (LDL-C) is the primary target of therapy in the primary and secondary prevention of cardiovascular events.
Dayspring, Thomas D, Phan, Binh An P, Toth, Peter P   +2 more
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Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD

Nature Communications, 2018
Niemann-Pick type C1 disease is most commonly caused by the allele NPC1 I1061T, which is misfolded in the ER and rapidly degraded by the ubiquitin proteasome system. Here the authors show that the I1061T mutant is also degraded by ER-phagy.
Mark L. Schultz, Kelsey L. Krus, Susmita Kaushik, Derek Dang, Ravi Chopra, Ling Qi, Vikram G. Shakkottai, Ana Maria Cuervo, Andrew P. Lieberman   +8 more
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The role of the Niemann-Pick disease, type C1 protein in adipocyte insulin action. [PDF]

PLoS ONE, 2014
The Niemann-Pick disease, type C1 (NPC1) gene encodes a transmembrane protein involved in cholesterol efflux from the lysosome. SNPs within NPC1 have been associated with obesity and type 2 diabetes, and mice heterozygous or null for NPC1 are insulin ...
Rachael Fletcher, Christopher Gribben, Xiuquan Ma, James G Burchfield, Kristen C Thomas, James R Krycer, David E James, Daniel J Fazakerley   +7 more
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Perturbed cholesterol and vesicular trafficking associated with dengue blocking in Wolbachia-infected Aedes aegypti cells [PDF]

, 2017
Wolbachia are intracellular maternally inherited bacteria that can spread through insect populations and block virus transmission by mosquitoes, providing an important approach to dengue control.
Ant, Thomas H., Charles, Philip D., Dowle, Adam A., Geoghegan, Vincent, Hester, Svenja, Larson, Tony, Rainey, Stephanie M., Sinkins, Steven P., Stainton, Kirsty, Thomas, Benjamin   +9 more
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Localization of Niemann–Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann– Pick type C disease [PDF]

Proceedings of the National Academy of Sciences, 1999
Niemann–Pick type C disease (NP-C) is an inherited neurovisceral lipid storage disorder characterized by progressive neurodegeneration. Most cases of NP-C result from inactivating mutations of NPC1 , a recently identified member of a family of genes encoding membrane-bound proteins containing putative sterol ...
Patel, S.C., Suresh, S., Kumar, U., Hu, C.Y., Cooney, A., Blanchette-Mackie, E.J., Neufeld, E.B., Patel, R.C., Brady, R.O., Patel, Y.C., Pentchev, P.G., Ong, W.-Y.   +11 more
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Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish[S]

Journal of Lipid Research, 2011
Niemann-Pick disease, type C (NP-C), often associated with Niemann-Pick disease, type C1 (NPC1) mu­tations, is a cholesterol-storage disorder characterized by cellular lipid accumulation, neurodegeneration, and reduced steroid production.
Tyler Schwend, Evyn J. Loucks, Diana Snyder, Sara C. Ahlgren   +3 more
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Alterations of intestinal lipoprotein metabolism in diabetes mellitus and metabolic syndrome [PDF]

, 2015
Diabetes and metabolic syndrome are associated with abnormal postprandial lipoprotein metabolism, with a significant delay in the clearance of many lipid parameters, including triglycerides and chylomicrons.
ARCA, Marcello
core   +1 more source