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lipoprotein lipase deficiency

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https://www.readbyqxmd.com/read/29784572/the-burden-of-familial-chylomicronemia-syndrome-results-from-the-global-in-focus-study
#1
Michael Davidson, Michael Stevenson, Andrew Hsieh, Zahid Ahmad, Jeanine Roeters van Lennep, Caroline Crowson, Joseph L Witztum
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia. Patients' burden of illness and quality of life have been poorly addressed in the literature. OBJECTIVE: To understand the ways in which FCS impacts patients' lives. METHODS: Investigation of Findings and Observations Captured in Burden of Illness Survey (IN-FOCUS) was a global web-based survey open to patients with FCS...
April 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29752428/angiopoietin-like-protein-3-angptl3-deficiency-and-familial-combined-hypolipidemia
#2
Tarugi Patrizia, Bertolini Stefano, Calandra Sebastiano
Three members of the angiopoietin-like (ANGPTL) protein family-ANGPTL3, ANGPTL4 and ANGPTL8- are important regulators of plasma lipoproteins. They inhibit the enzyme lipoprotein lipase, which plays a key role in the intravascular lipolysis of triglycerides present in some lipoprotein classes. This review focuses on the role of ANGPTL3 as emerged from the study of genetic variants of Angptl3 gene in mice and humans. Both loss of function genetic variants and inactivation of Angptl3 gene in mice are associated with a marked reduction of plasma levels of triglyceride and cholesterol and an increased activity of lipoprotein lipase and endothelial lipase...
April 12, 2018: Journal of Biomedical Research
https://www.readbyqxmd.com/read/29738435/crebh-regulates-systemic-glucose-and-lipid-metabolism
#3
REVIEW
Yoshimi Nakagawa, Hitoshi Shimano
The cyclic adenosine monophosphate (cAMP)-responsive element-binding protein H (CREBH, encoded by CREB3L3) is a membrane-bound transcriptional factor that primarily localizes in the liver and small intestine. CREBH governs triglyceride metabolism in the liver, which mediates the changes in gene expression governing fatty acid oxidation, ketogenesis, and apolipoproteins related to lipoprotein lipase (LPL) activation. CREBH in the small intestine reduces cholesterol transporter gene Npc1l1 and suppresses cholesterol absorption from diet...
May 8, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29660442/biochemical-and-cognitive-effects-of-docosahexaenoic-acid-differ-in-a-developmental-and-sorla-dependent-manner
#4
Anne Højland, Mette Richner, Simon Mølgaard, Ruthe Storgaard Dieu, Amanda Eskelund, Anders Nykjær, Jens Randel Nyengaard, Jens Lykkesfeldt, Simon Glerup, Morten Schallburg Nielsen
Beneficial effects of omega-3 fatty acid intake on cognition are under debate as some studies show beneficial effects while others show no effects of omega-3 supplementation. These inconsistencies may be a result of inter-individual response variations, potentially caused by gene and diet interactions. SorLA is a multifunctional receptor involved in ligand trafficking including lipoprotein lipase and amyloid precursor protein. Decreased SorLA levels have been correlated to Alzheimer's disease, and omega-3 fatty acid supplementation is known to increase SorLA expression in neuronal cell lines and mouse models...
April 13, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29605225/histomorphological-changes-in-the-pancreas-and-kidney-and-histopathological-changes-in-the-liver-in-male-wistar-rats-on-antiretroviral-therapy-and-melatonin-treatment
#5
Danélle Truter, Nireshni Chellan, Hans Strijdom, Ingrid Webster, Jordyn Rawstorne, Sanet H Kotzé
Combination antiretroviral therapy (cART) has shown to cause inflammation, cellular injury and oxidative stress, whereas melatonin has been successful in reducing these effects. The aim of the study was to determine potential morphometric changes caused by cART in combination with melatonin supplementation in human immunodeficiency virus (HIV)-free rats. Tissue samples (N = 40) of the pancreas, liver and kidney from a control (C/ART-/M-), cART group (C/ART + ), melatonin (C/M + ) and experimental group (ART+/M + ) were collected and stained with haematoxylin and eosin (H&E) and evaluated for histopathology...
March 28, 2018: Acta Histochemica
https://www.readbyqxmd.com/read/29599706/lipoprotein-lipase-is-a-feature-of-alternatively-activated-microglia-and-may-facilitate-lipid-uptake-in-the-cns-during-demyelination
#6
Kimberley D Bruce, Sachi Gorkhali, Katherine Given, Alison M Coates, Kristen E Boyle, Wendy B Macklin, Robert H Eckel
Severe demyelinating disorders of the central nervous system (CNS) such as multiple sclerosis (MS), can be devastating for many young lives. To date, the factors resulting in poor remyelination and repair are not well understood, and reparative therapies that benefit MS patients have yet to be developed. We have previously shown that the activity and abundance of Lipoprotein Lipase (LPL)-the rate-limiting enzyme in the hydrolysis of triglyceride-rich lipoproteins-is increased in Schwann cells and macrophages following nerve crush injury in the peripheral nervous system (PNS), suggesting that LPL may help scavenge myelin-derived lipids...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29599133/lal-lysosomal-acid-lipase-promotes-reverse-cholesterol-transport-in-vitro-and-in-vivo
#7
Kristin L Bowden, Joshua A Dubland, Teddy Chan, You-Hai Xu, Gregory A Grabowski, Hong Du, Gordon A Francis
OBJECTIVE: To explore the role of LAL (lysosomal acid lipase) in macrophage cholesterol efflux and whole-body reverse cholesterol transport. APPROACH AND RESULTS: Immortalized peritoneal macrophages from lal-/ - mice showed reduced expression of ABCA1 (ATP-binding cassette transporter A1) and ABCG1 (ATP-binding cassette transporter G1), reduced production of the regulatory oxysterol 27-hydroxycholesterol, and impaired suppression of cholesterol synthesis on exposure to acetylated low-density lipoprotein when compared with lal+/+ macrophages...
March 29, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29479812/rare-lpl-gene-missense-mutation-in-an-infant-with-hypertriglyceridemia
#8
Yuan-Yuan Qin, Ai-Qiu Wei, Qing-Wen Shan, Xiao-Ying Xian, Yang-Yang Wu, Lin Liao, Jie Yan, Zhan-Feng Lai, Fa-Quan Lin
BACKGROUND: Severe hypertriglyceridemia usually results from a combination of genetic and environmental factors and is most often attributable to mutations in the lipoprotein lipase (LPL) gene. OBJECTIVES: The aim of this study was to identify rare mutations in the LPL gene causing severe hypertriglyceridemia. METHODS: A Chinese infant who presented classical features of severe hypertriglyceridemia recruited for DNA sequencing of the LPL gene...
February 25, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29449313/impaired-thermogenesis-and-sharp-increases-in-plasma-triglyceride-levels-in-gpihbp1-deficient-mice-during-cold-exposure
#9
Mikael Larsson, Christopher M Allan, Patrick J Heizer, Yiping Tu, Norma P Sandoval, Rachel S Jung, Rosemary L Walzem, Anne P Beigneux, Stephen G Young, Loren G Fong
Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1), an endothelial cell protein, binds LPL in the subendothelial spaces and transports it to the capillary lumen. In Gpihbp1 -/- mice, LPL remains stranded in the subendothelial spaces, causing hypertriglyceridemia, but how Gpihbp1 -/- mice respond to metabolic stress (e.g., cold exposure) has never been studied. In wild-type mice, cold exposure increases LPL-mediated processing of triglyceride-rich lipoproteins (TRLs) in brown adipose tissue (BAT), providing fuel for thermogenesis and leading to lower plasma triglyceride levels...
April 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29424317/novel-hypolipidaemic-drugs-mechanisms-of-action-and-main-metabolic-effects
#10
Theodosios D Filippatos, Angelos Liontos, Eliza C Christopoulou, Moses S Elisaf
Over the last 3 decades, hypolipidaemic treatment has significantly reduced both cardiovascular (CV) risk and events, with statins being the cornerstone of this achievement. Nevertheless, residual CV risk and unmet goals in hypolipidaemic treatment make novel options necessary. Recently marketed monoclonal antibodies against proprotein convertase subtilisin/kexin type 9 (PCSK9) have shown the way towards innovation, while other ways of PCSK9 inhibition like small interfering RNA (Inclisiran) are already being tested...
February 8, 2018: Current Vascular Pharmacology
https://www.readbyqxmd.com/read/29419410/2017-george-lyman-duff-memorial-lecture-fat-in-the-blood-fat-in-the-artery-fat-in-the-heart-triglyceride-in-physiology-and-disease
#11
REVIEW
Ira J Goldberg
Cholesterol is not the only lipid that causes heart disease. Triglyceride supplies the heart and skeletal muscles with highly efficient fuel and allows for the storage of excess calories in adipose tissue. Failure to transport, acquire, and use triglyceride leads to energy deficiency and even death. However, overabundance of triglyceride can damage and impair tissues. Circulating lipoprotein-associated triglycerides are lipolyzed by lipoprotein lipase (LpL) and hepatic triglyceride lipase. We inhibited these enzymes and showed that LpL inhibition reduces high-density lipoprotein cholesterol by >50%, and hepatic triglyceride lipase inhibition shifts low-density lipoprotein to larger, more buoyant particles...
April 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29374543/lysosomal-acid-lipase-regulates-fatty-acid-channeling-in-brown-adipose-tissue-to-maintain-thermogenesis
#12
Madalina Duta-Mare, Vinay Sachdev, Christina Leopold, Dagmar Kolb, Nemanja Vujic, Melanie Korbelius, Dina C Hofer, Wenmin Xia, Katharina Huber, Martina Auer, Benjamin Gottschalk, Christoph Magnes, Wolfgang F Graier, Andreas Prokesch, Branislav Radovic, Juliane G Bogner-Strauss, Dagmar Kratky
Lysosomal acid lipase (LAL) is the only known enzyme, which hydrolyzes cholesteryl esters and triacylglycerols in lysosomes of multiple cells and tissues. Here, we explored the role of LAL in brown adipose tissue (BAT). LAL-deficient (Lal-/-) mice exhibit markedly reduced UCP1 expression in BAT, modified BAT morphology with accumulation of lysosomes, and mitochondrial dysfunction, consequently leading to regular hypothermic events in mice kept at room temperature. Cold exposure resulted in reduced lipid uptake into BAT, thereby aggravating dyslipidemia and causing life threatening hypothermia in Lal-/- mice...
April 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29374495/long-term-substrate-reduction-therapy-with-ezetimibe-alone-or-associated-with-statins-in-three-adult-patients-with-lysosomal-acid-lipase-deficiency
#13
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini
BACKGROUND: Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by drug agencies for treatment of this lysosomal disease. Ezetimibe is an azetidine derivative which blocks Niemann Pick C1-Like 1 Protein; as its consequence, plasmatic concentration of low density lipoproteins and other apoB-containing lipoproteins, that are the substrate of lysosomal acid lipase, are decreased...
January 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29371243/lipoprotein-lipase-deficiency-impairs-bone-marrow-myelopoiesis-and-reduces-circulating-monocyte-levels
#14
Chuchun L Chang, Itsaso Garcia-Arcos, Rakel Nyrén, Gunilla Olivecrona, Ji Young Kim, Yunying Hu, Rishi R Agrawal, Andrew J Murphy, Ira J Goldberg, Richard J Deckelbaum
OBJECTIVE: Tissue macrophages induce and perpetuate proinflammatory responses, thereby promoting metabolic and cardiovascular disease. Lipoprotein lipase (LpL), the rate-limiting enzyme in blood triglyceride catabolism, is expressed by macrophages in atherosclerotic plaques. We questioned whether LpL, which is also expressed in the bone marrow (BM), affects circulating white blood cells and BM proliferation and modulates macrophage retention within the artery. APPROACH AND RESULTS: We characterized blood and tissue leukocytes and inflammatory molecules in transgenic LpL knockout mice rescued from lethal hypertriglyceridemia within 18 hours of life by muscle-specific LpL expression (MCKL0 mice)...
March 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29366187/first-interim-results-of-the-global-longitudinal-pharmaco-epidemiologic-observational-registry-on-gene-therapy-in-the-management-of-lipoprotein-lipase-deficiency-geniall
#15
Elisabeth Steinhagen-Thiessen, Erik Stroes, Marcello Arca, Handrean Soran, Philippe Moulin, Daniel Gaudet, Thomas Stulnig, Colin Johnson, Irene Rastelletti, Michaela Dippel, Maurizio R Averna
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29365862/characterisation-of-plasma-lipoprotein-particles-in-spanish-patients-with-lysosomal-acid-lipase-deficiency-lal-d
#16
Enrique Rodríguez-García, Miriam Gil-Serret, María Concepción García-Jiménez, María Luisa González-Diéguez, Pablo Del Valle Loarte, Miguel Angel Barba-Romero, David Gil-Ortega, Rosa Bernal-López, Nuria Amigó, Raquel Yahyaoui
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29365429/natural-history-and-gene-expression-signature-of-platelet-count-in-lipoprotein-lipase-deficiency
#17
Karine Tremblay, Diane Brisson, Daniel Gaudet
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29358478/identification-of-rare-diseases-by-screening-a-population-selected-on-the-basis-of-routine-pathology-results-the-pathfinder-project-lysosomal-acid-lipase-cholesteryl-ester-storage-disease-substudy
#18
Timothy M Reynolds, Clare Mewies, John Hamilton, Anthony S Wierzbicki
AIMS: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder of cholesterol ester storage associated with hepatic disease, cirrhosis and accelerated atherosclerosis. Its prevalence in the general population, patients with dyslipidaemia and raised transaminases is unclear. This study attempted to identify the prevalence of LALD from patients with abnormal results in laboratory databases. METHODS: Electronic laboratory databases were interrogated to identify from clinical biochemistry records patients with a phenotype of low high-density lipoprotein-cholesterol (≤0...
January 22, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29351106/the-role-of-patient-registries-for-rare-genetic-lipid-disorders
#19
David M Ng, Amanda J Hooper, Matthew I Bellgard, John R Burnett
PURPOSE OF REVIEW: We review the role, utility and current status of patient registries for rare genetic lipid disorders. RECENT FINDINGS: The creation and maintenance of rare genetic lipid disorder patient registries is critical for disease monitoring, improving clinical best practice, facilitating research and enabling the development of novel therapeutics. An open-source disease registry platform, termed the Rare Disease Registry Framework, has been developed, optimized and deployed for homozygous familial hypercholesterolemia...
April 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29332587/lysosomal-acid-lipase-deficiency-could-dyslipidemia-drive-the-diagnosis
#20
REVIEW
Ornella Guardamagna, Federica Guaraldi
LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations are very heterogeneous in terms of the age of onset, severity and the type of clinical and radiological manifestations. Dyslipidemia, hepatomegaly and hepatosteatosis with increased levels of transaminases are the most common features. The increased risk of premature atherosclerosis and cardiovascular disorders, secondary to a generalized alteration of lipid profile and lipoprotein dysfunction associated with LAL-D, has been increasingly pointed out...
2017: Current Pediatric Reviews
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