Results 11 to 20 of about 37,789 (262)

MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants [PDF]

JACC: Basic to Translational Science, 2021
Untreated familial hypercholesterolemia (FH) leads to atherosclerosis and early cardiovascular disease. Mutations in the low-density lipoprotein receptor (LDLr) gene constitute the major cause of FH, and the high number of mutations already described in ...
Martín Plágaro, César Augusto, Cenarro, Ana, Arrasate Gil, Sonia, González Díaz, Humberto, Arrasate, Sonia, Uribe, K.B., Civeira, Fernando, Benito-Vicente, A., González-Díaz, H., Martín, César, Civeira Murillo, Fernando, Benito-Vicente, Asier, Fernández-Higuero, José Ángel, Galicia García, Unai, Cenarro, A., Fernandez-Higuero, J.A., Jebari-Benslaiman, S., Ostolaza, Helena, Arrasate, S., Civeira, F., Larrea Sebal, Asier, Ostolaza, H., Belloso Uribe, Kepa, Benito Vicente, Asier, Fernández Higuero, José Ángel, Larrea-Sebal, A., Galicia-Garcia, U., Cenarro Lagunas, Ana, Galicia-García, Unai, Ostolaza Echabe, Elena Amaya, Uribe, Kepa B., Larrea, Asier, González-Díaz, Humberto, Jebari Benslaiman, Shifa, Martín, C., Jebari-Benslaiman, Shifa   +35 more
core   +7 more sources

Increased Inflammation in Atherosclerotic Lesions of Diabetic Akita-LDLr(-/-) Mice Compared to Nondiabetic LDLr(-/-) Mice. [PDF]

Experimental Diabetes Research, 2012
Background. Diabetes is associated with increased cardiovascular disease, but the underlying cellular and molecular mechanisms are poorly understood. One proposed mechanism is that diabetes aggravates atherosclerosis by enhancing plaque inflammation. The
To, Fong, Nilsson, Jan, Gomez, Maria, Söderberg, Ingrid, Kotova, Olga, Bengtsson, Eva, Engelbertsen, Daniel, Alm, Ragnar, Dunér, Pontus   +8 more
core   +5 more sources

Oxidative Stress and Lipid Accumulation Augments Cell Death in LDLR-Deficient RPE Cells and Ldlr−/− Mice [PDF]

Cells, 2022
Lipid peroxidation from oxidative stress is considered a major contributor to age-related macular degeneration (AMD). The retina is abundant with circulating low-density lipoproteins (LDL), which are taken up by LDL receptor (LDLR) in the RPE and Mü ...
Feng Su, Steven Nusinowitz, Spee, Christine, Ram Kannan, Sreekumar, Parameswaran Gangadharan, Parameswaran Gangadharan Sreekumar, Christine Spee, Araujo, Eduardo, Nusinowitz, Steven, Kannan, Ram, Reddy, Srinivasa T, Su, Feng, Srinivasa T Reddy, Eduardo Araujo   +13 more
core   +6 more sources

Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants

Journal of clinical lipidology, 2022
Background: Familial Hypercholesterolemia (FH) is a semidominant disorder of the lipid metabolism associated with premature atherosclerosis and coronary heart disease.
Zimon, Magdalena, Pepperkok, Rainer, Bourbon, Mafalda, Graça, Rafael, Alves, Ana Catarina   +4 more
core   +3 more sources

Structure prediction of LDLR-HNP1 complex based on docking enhanced by LDLR binding 3D motif

Protein & Peptide Letters, 2012
Human antimicrobial peptides (AMPs), including defensins, have come under intense scrutiny owing to their key multiple roles as antimicrobial agents. Not only do they display direct action on microbes, but also recently they have shown to interact with ...
Naughton, Declan, Esmaielbeiki, Reyhaneh, Nebel, Jean-Christophe   +2 more
core   +3 more sources

A dual-reporter LDLR system integrating fluorescence and luminescence for understanding LDLR regulation and facilitating drug discovery

Frontiers in Molecular Biosciences
IntroductionThe low-density lipoprotein receptor (LDLR) is integral to cholesterol metabolism and cardiovascular health. Enhancing LDLR expression is a promising strategy for treating hyperlipidemia and reducing the risk of atherosclerosis.
Peng Jiao, Peng Jiao, Peng Jiao, Peng Jiao, Na Yang, Na Yang, Qianfeng Jia, Baozhen Fan, Ke Feng, Ke Feng, Jian Yu, Shengtian Zhao, Shengtian Zhao, Shengtian Zhao   +13 more
doaj   +3 more sources

Allosteric Modulation of PCSK9-LDLR Interaction: Can Structureless Loops be Drug Targets? [PDF]

, 2022
While most of the drugs available in the market are competitive inhibitors, there is a rapidly growing interest in development of allosteric drugs, particularly to inhibit protein-protein interactions (PPI) with large interaction surface area.
Suman, Chakrabarty, Zacharia , Shah, Salim , Shah, Krishnendu , Sinha, Ipsita, Basu   +4 more
core   +2 more sources

Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR [PDF]

Human Molecular Genetics, 2015
Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH). The mechanism by which mutations in the LDLR affecting the transmembrane domain of the receptor cause FH has not been thoroughly investigated. In this study, we have selected 12 naturally occurring mutations affecting the transmembrane domain and ...
Thea Bismo, Strøm, Jon K, Laerdahl, Trond P, Leren   +2 more
openaire   +2 more sources

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas   +30 more
wiley   +1 more source

Primate-specific evolution of an LDLR enhancer [PDF]

Genome Biology, 2006
BackgroundSequence changes in regulatory regions have often been invoked to explain phenotypic divergence among species, but molecular examples of this have been difficult to obtain. Results In this study we identified an anthropoid primate-specific sequence element that contributed to the regulatory ...
Wang, Qian-Fei, Prabhakar, Shyam, Wang, Qianben, Moses, Alan M., Chanan, Sumita, Brown, Myles, Eisen, Michael B., Cheng, Jan-Fang, Rubin, Edward M., Boffelli, Dario   +9 more
openaire   +6 more sources