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https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#1
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27932355/familial-hypercholesterolemia-phenotype-in-chinese-patients-undergoing-coronary-angiography
#2
Jian-Jun Li, Sha Li, Cheng-Gang Zhu, Na-Qiong Wu, Yan Zhang, Yuan-Lin Guo, Ying Gao, Xiao-Lin Li, Ping Qing, Chuan-Jue Cui, Rui-Xia Xu, Zheng-Wen Jiang, Jing Sun, Geng Liu, Qian Dong
OBJECTIVE: Familial hypercholesterolemia (FH) is characterized by an elevated low-density lipoprotein cholesterol and increased risk of premature coronary artery disease. However, the general picture and mutational spectrum of FH in China are far from recognized, representing a missed opportunity for the investigation. APPROACH AND RESULTS: A total of 8050 patients undergoing coronary angiography were enrolled. The diagnosis of clinical FH was made using Dutch Lipid Clinic Network criteria, and the information of relatives was obtained by inquiring for the probands or from their own medical records of certain clinics/hospitals...
December 8, 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/27928899/alleviating-vldl-overproduction-is-an-important-mechanism-for-laminaria-japonica-polysaccharide-to-inhibit-atherosclerosis-in-ldlr-mice-with-diet-induced-insulin-resistance
#3
Xue-Qiang Zha, Wei-Nan Zhang, Fu-Hua Peng, Lei Xue, Jian Liu, Jian-Ping Luo
SCOPE: The overproduction of very low density lipoprotein (VLDL) is an important cause for initiation and development of atherosclerosis, which is highly associated with insulin signaling. The aim of this work is to verify whether the inhibition of VLDL overproduction is an underlying mechanism for a Laminaria japonica polysaccharide (LJP61A) to resist atherosclerosis. METHODS AND RESULTS: LJP61A (50 and 200 mg/Kg/day) was orally administered to a high fat diet (HFD)-fed LDLr(-/-) mice for 14 weeks...
December 8, 2016: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/27923447/amelioration-of-non-alcoholic-fatty-liver-disease-with-npc1l1-targeted-igy-or-n-3-polyunsaturated-fatty-acids-in-mice
#4
Jin-Sik Bae, Jong-Min Park, Junghoon Lee, Byung-Chul Oh, Sang-Ho Jang, Yun Bin Lee, Young-Min Han, Chan-Young Ock, Ji-Young Cha, Ki-Baik Hahm
Patients with non-alcoholic fatty liver disease (NAFLD) have an increased risk for progression to hepatocellular carcinoma in addition to comorbidities such as cardiovascular and serious metabolic diseases; however, the current therapeutic options are limited. Based on our previous report that omega-3 polyunsaturated fatty acids (n-3 PUFAs) can significantly ameliorate high fat diet (HFD)-induced NAFLD, we explored the therapeutic efficacy of n-3 PUFAs and N-IgY, which is a chicken egg yolk-derived IgY specific for the Niemann-Pick C1-Like 1 (NPC1L1) cholesterol transporter, on NAFLD in mice...
January 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/27920219/the-proprotein-convertases-in-hypercholesterolemia-and-cardiovascular-diseases-emphasis-on-proprotein-convertase-subtilisin-kexin-9
#5
REVIEW
Nabil G Seidah, Marianne Abifadel, Stefan Prost, Catherine Boileau, Annik Prat
The secretory proprotein convertase (PC) family comprises nine members, as follows: PC1/3, PC2, furin, PC4, PC5/6, paired basic amino acid cleaving enzyme 4, PC7, subtilisin kexin isozyme 1/site 1 protease (SKI-1/S1P), and PC subtilisin/kexin type 9 (PCSK9). The first seven PCs cleave their substrates at single/paired basic residues and exhibit specific and often essential functions during development and/or in adulthood. The essential SKI-1/S1P cleaves membrane-bound transcription factors at nonbasic residues...
January 2017: Pharmacological Reviews
https://www.readbyqxmd.com/read/27919364/double-heterozygous-autosomal-dominant-hypercholesterolemia-clinical-characterization-of-an-underreported-disease
#6
Barbara Sjouke, Joep C Defesche, Merel L Hartgers, Albert Wiegman, Jeanine E Roeters van Lennep, John J Kastelein, G Kees Hovingh
INTRODUCTION: Autosomal dominant hypercholesterolemia (ADH), characterized by high-plasma low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD) risk, is caused by mutations in LDLR, APOB, and/or PCSK9. OBJECTIVE: To describe the clinical characteristics of "double-heterozygous carriers," with 2 mutations in 2 different ADH causing genes, that is, LDLR and APOB or LDLR and PCSK9. METHODS: Double heterozygotes were identified in the database of the national referral laboratory for DNA diagnostics of inherited dyslipidemias...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919357/lipid-phenotype-and-heritage-pattern-in-families-with-genetic-hypercholesterolemia-not-related-to-ldlr-apob-pcsk9-or-apoe
#7
Estíbaliz Jarauta, María Rosario Pérez-Ruiz, Sofia Pérez-Calahorra, Rocio Mateo-Gallego, Ana Cenarro, Montserrat Cofán, Emilio Ros, Fernando Civeira, Maria Teresa Tejedor
BACKGROUND: A substantial proportion of individuals clinically diagnosed as familial hypercholesterolemia (FH) do not carry pathogenic mutations in candidate genes. Whether in them the high cholesterol trait is transmitted monogenically has not been studied. OBJECTIVES: We assessed the inheritance pattern, penetrance, and expression of high low-density lipoprotein (LDL)-cholesterol (LDLc) in families with genetic hypercholesterolemia (GH) without known causative mutations (non-FH-GH)...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919345/familial-defective-apolipoprotein-b-100-a%C3%A2-review
#8
REVIEW
Lars H Andersen, André R Miserez, Zahid Ahmad, Rolf L Andersen
Familial defective apolipoprotein B-100 (FDB) is an autosomal dominant genetic disorder of lipid metabolism associated with hyperlipidemia and elevated risk for atherosclerosis. FDB is caused by mutations in APOB reducing the binding affinity between apolipoprotein B-100 and the low-density lipoprotein receptor. Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the R3500Q variant in APOB most commonly associated with FDB; in addition, the APOB R3500 W variant is known to make a significant contribution to familial hypercholesterolemia (FH) among East Asians...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27918728/cholesterol-metabolism-in-rabbit-blastocysts-under-maternal-diabetes
#9
S Mareike Pendzialek, Maria Schindler, Torsten Plösch, Jacqueline Gürke, Elisa Haucke, Stefanie Hecht, Bernd Fischer, Anne Navarrete Santos
In the rabbit reproductive model, maternal experimentally induced insulin-dependent diabetes mellitus (expIDD) leads to accumulation of lipid droplets in blastocysts. Cholesterol metabolism is a likely candidate to explain such metabolic changes. Therefore, in the present study we analysed maternal and embryonic cholesterol concentrations and expression of related genes in vivo (diabetic model) and in vitro (embryo culture in hyperglycaemic medium). In pregnant expIDD rabbits, the serum composition of lipoprotein subfractions was changed, with a decrease in high-density lipoprotein cholesterol and an increase in very low-density lipoprotein cholesterol; in uterine fluid, total cholesterol concentrations were elevated...
December 6, 2016: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/27916814/low-density-lipoprotein-receptor-contributes-to-%C3%AE-carotene-uptake-in-the-maternal-liver
#10
Varsha Shete, Brianna K Costabile, Youn-Kyung Kim, Loredana Quadro
Vitamin A regulates many essential mammalian biological processes, including embryonic development. β-carotene is the main source of vitamin A in the human diet. Once ingested, it is packaged into lipoproteins, predominantly low-density lipoproteins (LDL), and transported to different sites within the body, including the liver and developing tissues, where it can either be stored or metabolized to retinoids (vitamin A and its derivatives). The molecular mechanisms of β-carotene uptake by the liver or developing tissues remain elusive...
November 29, 2016: Nutrients
https://www.readbyqxmd.com/read/27915184/anti-atherosclerotic-effects-of-pravastatin-in-brachiocephalic-artery-in-comparison-with-en-face-aorta-and-aortic-roots-in-apoe-ldlr-mice
#11
Renata B Kostogrys, Magdalena Franczyk-Zarow, Marlena Gasior-Glogowska, Edyta Kus, Agnieszka Jasztal, Tomasz P Wrobel, Malgorzata Baranska, Izabela Czyzynska-Cichon, Anna Drahun, Angelika Manterys, Stefan Chlopicki
BACKGROUND: Cholesterol-dependent and independent mechanisms were proposed to explain anti-atherosclerotic action of statins in humans. However, their effects in murine models of atherosclerosis have not been consistently demonstrated. Here, we studied the effects of pravastatin on atherosclerosis in ApoE/LDLR(-/-) mice fed a control and atherogenic diet. METHODS: ApoE/LDLR(-/-) mice were fed a control (CHOW) or an atherogenic (Low Carbohydrate High Protein, LCHP) diet...
September 17, 2016: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/27909409/3-5-3-triiodo-l-thyronine-and-3-5-diiodo-l-thyronine-affected-metabolic-pathways-in-liver-of-ldl-receptor-deficient-mice
#12
Maria Moreno, Elena Silvestri, Maria Coppola, Ira J Goldberg, Li-Shin Huang, Anna M Salzano, Fulvio D'Angelo, Joel R Ehrenkranz, Fernando Goglia
3,5,3'-triiodo-L-thyronine (T3) and 3,5-diiodo-L-thyronine (T2), when administered to a model of familial hypercholesterolemia, i.e., low density lipoprotein receptor (LDLr)-knockout (Ldlr(-/-)) mice fed with a Western type diet (WTD), dramatically reduce circulating total and very low-density lipoprotein/LDL cholesterol with decreased liver apolipoprotein B (ApoB) production. The aim of the study was to highlight putative molecular mechanisms to manage cholesterol levels in the absence of LDLr. A comprehensive comparative profiling of changes in expression of soluble proteins in livers from Ldlr(-/-) mice treated with either T3 or T2 was performed...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27909053/endoplasmic-reticulum-stress-and-ca2-depletion-differentially-modulate-the-sterol-regulatory-protein-pcsk9-to-control-lipid-metabolism
#13
Paul Lebeau, Ali Al-Hashimi, Sudesh Sood, Sarka Lhotak, Pei Yu, Gabriel Gyulay, Guillaume Pare, S R Wayne Chen, Bernardo Trigatti, Annik Prat, Nabil Seidah, Richard C Austin
Accumulating evidence implicates endoplasmic reticulum (ER) stress as a mediator of impaired lipid metabolism, thereby contributing to fatty liver disease and atherosclerosis. Previous studies demonstrated that ER stress can activate the sterol regulatory element-binding protein-2 (SREBP2), an ER localized transcription factor that directly upregulates sterol-regulatory genes, including PCSK9. Given that PCSK9 contributes to atherosclerosis by targeting low-density lipoprotein (LDL) receptor (LDLR) degradation, our present study investigates a novel mechanism by which ER stress plays a role in lipid metabolism by examining its ability to modulate PCSK9 expression...
December 1, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27906619/effects-of-4-pyridone-3-carboxamide-1%C3%AE-d-ribonucleoside-on-adenine-nucleotide-catabolism-in-the-aortic-wall-implications-for-atherosclerosis-in-apoe-ldlr-mice
#14
Magdalena Zabielska, Barbara Kutryb-Zajac, Paulina Żukowska, Ewa Slominska, Ryszard Smoleński
: 4-Pyridone-3-carboxamide-1-beta-D-ribonucleoside (4PYR) is an endogenously produced nucleoside that had been identified as a substrate for intracellular phosphorylation to form intracellular nucleotides. Previous studies demonstrated that 4PYR adversely affects metabolism of endothelial cells that is known risk factor for atherosclerosis. The purpose of this study was to evaluate effects of 4PYR on the progression of atherosclerosis and changes in extracellular nucleotides degradation on the surface of the vessel wall in the murine model...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27903567/increased-plasma-ige-accelerate-atherosclerosis-in-secreted-igm-deficiency
#15
Dimitrios Tsiantoulas, Ilze Bot, Maria Ozsvar Kozma, Laura Goederle, Thomas Perkmann, Karsten Hartvigsen, Daniel H Conrad, Johan Kuiper, Ziad Mallat, Christoph J Binder
RATIONALE: Deficiency of secreted IgM (sIgM(-/-)) accelerates atherosclerosis in Ldlr(-/-) mice. Several atheroprotective effects of increased levels of IgM antibodies have been suggested, including preventing inflammation induced by oxidized LDL and promoting apoptotic cell clearance. However, the mechanisms by which the lack of sIgM promotes lesion formation remain unknown. OBJECTIVE: To identify the mechanisms by which sIgM deficiency accelerates atherosclerosis in mice...
November 30, 2016: Circulation Research
https://www.readbyqxmd.com/read/27899403/meta-analysis-of-genome-wide-association-studies-for-abdominal-aortic-aneurysm-identifies-four-new-disease-specific-risk-loci
#16
Gregory T Jones, Gerard Tromp, Helena Kuivaniemi, Solveig Gretarsdottir, Annette F Baas, Betti Giusti, Ewa Strauss, Femke N van 't Hof, Thomas Webb, Robert Erdman, Marylyn D Ritchie, James R Elmore, Anurag Verma, Sarah Pendergrass, Iftikhar J Kullo, Zi Ye, Peggy L Peissig, Omri Gottesman, Shefali S Verma, Jennifer Malinowski, Laura J Rasmussen-Torvik, Kenneth Borthwick, Diane T Smelser, David R Crosslin, Mariza de Andrade, Evan J Ryer, Catherine A McCarty, Erwin P Bottinger, Jennifer A Pacheco, Dana C Crawford, David S Carrell, Glenn S Gerhard, David P Franklin, David J Carey, Victoria L Phillips, Michael J Williams, Wenhua Wei, Ross Blair, Andrew A Hill, Thodur M Vasudevan, David R Lewis, Ian A Thomson, Jo Krysa, Geraldine B Hill, Justin Roake, Tony R Merriman, Grzegorz Oszkinis, Silvia Galora, Claudia Saracini, Rosanna Abbate, Raffaele Pulli, Carlo Pratesi, Athanasios Saratzis, Anna Verissimo, Suzannah J Bumpstead, Stephen A Badger, Rachel E Clough, Gillian W Cockerill, Hany Hafez, D J Scott, T S Futers, Simon P Romaine, Katherine Bridge, Kathryn J Griffin, Marc A Bailey, Alberto Smith, Matt M Thompson, Frank van Bockxmeer, Stefan E Matthiasson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Jan D Blankensteijn, Joep A Teijink, Cisca Wijmenga, Jacqueline de Graaf, Lambertus A Kiemeney, Jes S Lindholt, Anne E Hughes, Declan T Bradley, Kathleen Stirrups, Jonathan Golledge, Paul E Norman, Janet T Powell, Steve E Humphries, Stephen E Hamby, Alison H Goodall, Christopher P Nelson, Natzi Sakalihasan, Audrey Courtois, Robert E Ferrell, Per Eriksson, Lasse Folkersen, Anders Franco-Cereceda, John D Eicher, Andrew D Johnson, Christer Betsholtz, Arno Ruusalepp, Oscar Franzén, Eric Schadt, Johan L Björkegren, Leonard Lipovich, Anne M Drolet, Eric Verhoeven, Clark J Zeebregts, Robert H Geelkerken, Marc R van Sambeek, Steven M van Sterkenburg, Jean-Paul P de Vries, Kari Stefansson, John R Thompson, Paul I de Bakker, Panos Deloukas, Robert D Sayers, Seamus Harrison, Andre M van Rij, Nilesh J Samani, Matthew J Bown
RATIONALE: Abdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci only explain a small proportion of the heritability of AAA. OBJECTIVE: To identify additional AAA risk loci using data from all available genome-wide association studies (GWAS). METHODS AND RESULTS: Through a meta-analysis of 6 GWAS datasets and a validation study totalling 10,204 cases and 107,766 controls we identified 4 new AAA risk loci: 1q32...
November 29, 2016: Circulation Research
https://www.readbyqxmd.com/read/27898698/myeloid-dll4-does-not-contribute-to-the-pathogenesis-of-non-alcoholic-steatohepatitis-in-ldlr-mice
#17
Mike L J Jeurissen, Sofie M A Walenbergh, Tom Houben, Tim Hendrikx, Jieyi Li, Yvonne Oligschlaeger, Patrick J van Gorp, Marion J J Gijbels, Albert Bitorina, Isabell Nessel, Freddy Radtke, Marc Vooijs, Jan Theys, Ronit Shiri-Sverdlov
Non-alcoholic steatohepatitis (NASH) is characterized by liver steatosis and inflammation. Currently, the underlying mechanisms leading to hepatic inflammation are not fully understood and consequently, therapeutic options are poor. Non-alcoholic steatohepatitis (NASH) and atherosclerosis share the same etiology whereby macrophages play a key role in disease progression. Macrophage function can be modulated via activation of receptor-ligand binding of Notch signaling. Relevantly, global inhibition of Notch ligand Delta-Like Ligand-4 (DLL4) attenuates atherosclerosis by altering the macrophage-mediated inflammatory response...
2016: PloS One
https://www.readbyqxmd.com/read/27896130/studies-of-the-autoinhibitory-segment-comprising-residues-31-60-of-the-prodomain-of-pcsk9-possible-implications-for-the-mechanism-underlying-gain-of-function-mutations
#18
Lene Wierød, Jamie Cameron, Thea Bismo Strøm, Trond P Leren
Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low density lipoprotein receptor (LDLR) at the cell surface and is internalized as a complex with the LDLR. In the acidic milieu of the sorting endosome, PCSK9 remains bound to the LDLR and prevents the LDLR from folding over itself to adopt a closed conformation. As a consequence, the LDLR fails to recycle back to the cell membrane. Even though it is the catalytic domain of PCSK9 that interacts with the LDLR at the cell surface, the structurally disordered segment consisting of residues 31-60 and which is rich in acidic residues, has a negative effect both on autocatalytic cleavage and on the activity of PCSK9 towards the LDLR...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27895090/identification-of-roles-for-h264-h306-h439-and-h635-in-acid-dependent-lipoprotein-release-by-the-ldl-receptor
#19
Hongyun Dong, Zhenze Zhao, Drake G LeBrun, Peter Michaely
Lipoproteins internalized by the LDL receptor are released from this receptor in endosomes through a process that involves acid-dependent conformational changes in the receptor ectodomain. How acidic pH promotes this release process is not well understood. Here, we assessed roles for six histidine residues for which either genetic or structural data suggested a possible role in the acid-responsiveness of the LDLR. Using assays that measured conformational change, acid-dependent lipoprotein release, LDLR recycling, and net lipoprotein uptake, we show that H635 plays important roles in acid-dependent conformational change and lipoprotein release, while H264, H306 and H439 play ancillary roles in the response of the LDLR to acidic pH...
November 28, 2016: Journal of Lipid Research
https://www.readbyqxmd.com/read/27893427/cholesterol-import-and-steroidogenesis-are-biosignatures-for-gastric-cancer-patient-survival
#20
Wei-Chun Chang, Shang-Fen Huang, Yang-Ming Lee, Hsueh-Chou Lai, Bi-Hua Cheng, Wei-Chung Cheng, Jason Yen-Ping Ho, Long-Bin Jeng, Wen-Lung Ma
Androgens, estrogens, progesterone and related signals are reported to be involved in the pathology of gastric cancer. However, varied conclusions exist based on serum hormone levels, receptor expressions, and in vitro or in vivo studies. This report used a web-based gene survival analyzer to evaluate biochemical processes, including cholesterol importing via lipoprotein/receptors (L/R route), steroidogenic enzymes, and steroid receptors, in gastric cancer patients prognosis. The sex hormone receptors (androgen receptor, progesterone receptor, and estrogen receptor ESR1 or ESR2), L/R route (low/high-density lipoprotein receptors, LDLR/LRP6/SR-B1 and lipoprotein lipase, LPL) and steroidogenic enzymes (CYP11A1, HSD3B1, CYP17, HSD17B1, HSD3B1, CYP19A1 and SRD5A1) were associated with 5-year survival of gastric cancer patients...
November 23, 2016: Oncotarget
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