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lipoprotein lipase deficiency

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https://www.readbyqxmd.com/read/28882870/crispr-cas9-mediated-gene-editing-in-human-ipsc-derived-macrophage-reveals-lysosomal-acid-lipase-function-in-human-macrophages
#1
Hanrui Zhang, Jianting Shi, Melanie A Hachet, Chenyi Xue, Robert C Bauer, Hongfeng Jiang, Wenjun Li, Junichiro Tohyama, John Millar, Jeffrey Billheimer, Michael C Phillips, Babak Razani, Daniel J Rader, Muredach P Reilly
OBJECTIVE: To gain mechanistic insights into the role of LIPA(lipase A), the gene encoding LAL (lysosomal acid lipase) protein, in human macrophages. APPROACH AND RESULTS: We used CRISPR (clustered regularly interspaced short palindromic repeats )/Cas9 (CRISPR-associated protein 9) technology to knock out LIPA in human induced pluripotent stem cells and then differentiate to macrophage (human-induced pluripotent stem cells-derived macrophage [IPSDM]) to explore the human macrophage LIPA loss-of-function phenotypes...
September 7, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28881270/molecular-and-clinical-characterization-of-a-series-of-patients-with-childhood-onset-lysosomal-acid-lipase-deficiency-retrospective-investigations-follow-up-and-detection-of-two-novel-lipa-pathogenic-variants
#2
Livia Pisciotta, Giulia Tozzi, Lorena Travaglini, Roberta Taurisano, Tiziano Lucchi, Giuseppe Indolfi, Francesco Papadia, Maja Di Rocco, Lorenzo D'Antiga, Patricia Crock, Komal Vora, Scott Nightingale, Helen Michelakakis, Anastasia Garoufi, Lilia Lykopoulou, Stefano Bertolini, Sebastiano Calandra
BACKGROUND AND AIMS: Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses cholesteryl esters, derived from internalized apoB containing lipoproteins. The disease is characterized by multi-organ involvement including the liver, spleen, intestine and cardiovascular system. The aim of this study was the clinical and molecular characterization of 14 (13 unrelated) previously unreported patients with childhood-onset LAL-D...
August 26, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28710138/disruption-of-lipid-uptake-in-astroglia-exacerbates-diet-induced-obesity
#3
Yuanqing Gao, Clarita Layritz, Beata Legutko, Thomas O Eichmann, Elise Laperrousaz, Valentine S Moullé, Celine Cruciani-Guglielmacci, Christophe Magnan, Serge Luquet, Stephen C Woods, Robert H Eckel, Chun-Xia Yi, Cristina Garcia-Caceres, Matthias H Tschöp
Neuronal circuits in the brain help to control feeding behavior and systemic metabolism in response to afferent nutrient and hormonal signals. Although astrocytes have historically been assumed to be less relevant for such neuroendocrine control, we asked whether lipid uptake via lipoprotein lipase (LPL) in astrocytes is required for the central regulation of energy homeostasis. Ex vivo studies with hypothalamic-derived astrocytes showed that LPL expression is up-regulated by oleic acid; whereas it is decreased in response to palmitic acid or triglyceride...
July 14, 2017: Diabetes
https://www.readbyqxmd.com/read/28695157/lipoprotein-lipase-deficiency-in-an-infant-with-chylomicronemia-hepatomegaly-and-lipemia-retinalis
#4
Dinesha Maduri Vidanapathirana, Thushara Rodrigo, Samantha Waidyanatha, Eresha Jasinge, Amanda J Hooper, John R Burnett
No abstract text is available yet for this article.
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28666713/gpihbp1-autoantibodies-in-a-patient-with-unexplained-chylomicronemia
#5
Xuchen Hu, Geesje M Dallinga-Thie, G Kees Hovingh, Sandy Y Chang, Norma P Sandoval, Tiffany Ly P Dang, Isamu Fukamachi, Kazuya Miyashita, Katsuyuki Nakajima, Masami Murakami, Loren G Fong, Michael Ploug, Stephen G Young, Anne P Beigneux
BACKGROUND: GPIHBP1, a glycolipid-anchored protein of capillary endothelial cells, binds lipoprotein lipase (LPL) in the interstitial spaces and transports it to the capillary lumen. GPIHBP1 deficiency prevents LPL from reaching the capillary lumen, resulting in low intravascular LPL levels, impaired intravascular triglyceride processing, and severe hypertriglyceridemia (chylomicronemia). A recent study showed that some cases of hypertriglyceridemia are caused by autoantibodies against GPIHBP1 ("GPIHBP1 autoantibody syndrome")...
July 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28641384/acute-testosterone-deficiency-alters-adipose-tissue-fatty-acid-storage
#6
Sylvia Santosa, Nikki C Bush, Michael D Jensen
Context: Although the long-term effects of testosterone on adipose tissue lipid metabolism in men have been defined, the short-term regulation of these effects is not well understood. Objective: We examined the effects of acute testosterone withdrawal on subcutaneous abdominal and femoral adipose tissue fatty acid (FA) storage and cellular mechanisms. Design: This was a prospective, randomized trial. Setting: Mayo Clinic Clinical Research Unit...
August 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28529016/eruptive-xanthomas-in-lipoprotein-lipase-deficiency
#7
Paola Sabrina Buonuomo, Monica Malamisura, Marina Macchiaiolo, Ippolita Rana, Michaela Veronika Gonfiantini, Gerarda Mastrogiorgio, Andrea Bartuli
No abstract text is available yet for this article.
May 18, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#8
U Kassner, M Dippel, E Steinhagen-Thiessen
Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication...
August 2017: Der Internist
https://www.readbyqxmd.com/read/28502512/metreleptin-therapy-lowers-plasma-angiopoietin-like-protein-3-in-patients-with-generalized-lipodystrophy
#9
Ranganath Muniyappa, Brent S Abel, Asha Asthana, Mary F Walter, Elaine K Cochran, Alan T Remaley, Monica C Skarulis, Phillip Gorden, Rebecca J Brown
BACKGROUND: Reduced triglyceride clearance due to impaired lipoprotein lipase-mediated lipolysis contributes to severe hypertriglyceridemia in lipodystrophy. Angiopoietin-like protein 3 (ANGPTL3) and 4 (ANGPTL4) impair clearance of triglycerides by inhibiting lipoprotein lipase. Whether circulating ANGPTL3/4 levels are altered in lipodystrophy and the effects of leptin replacement on these ANGPTLs are unknown. OBJECTIVE: To examine if ANGPTL3/4 levels are elevated in patients with generalized lipodystrophy and assess the effects of leptin replacement on these ANGPTLs...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28502509/the-heterozygous-n291s-mutation-in-the-lipoprotein-lipase-gene-impairs-whole-body-insulin-sensitivity-and-affects-a-distinct-set-of-plasma-metabolites-in-humans
#10
Sofia Mikkelsen Berg, Jesper Havelund, Harald Hasler-Sheetal, Vibeke Kruse, Andreas James Thestrup Pedersen, Aleksander Bill Hansen, Mads Nybo, Henning Beck-Nielsen, Kurt Højlund, Nils Joakim Færgeman
BACKGROUND: Mutations in the lipoprotein lipase gene causing decreased lipoprotein lipase activity are associated with surrogate markers of insulin resistance and the metabolic syndrome in humans. OBJECTIVE: We investigated the hypothesis that a heterozygous lipoprotein lipase mutation (N291S) induces whole-body insulin resistance and alterations in the plasma metabolome. METHODS: In 6 carriers of a heterozygous lipoprotein lipase mutation (N291S) and 11 age-matched and weight-matched healthy controls, we examined insulin sensitivity and substrate metabolism by euglycemic-hyperinsulinemic clamps combined with indirect calorimetry...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28493444/impact-of-hyperlipidaemia-on-intermediary-metabolism-faecal-microbial-metabolites-and-urinary-characteristics-of-lipoprotein-lipase-deficient-vs-normal-cats
#11
N Paßlack, J Zentek, J A Larsen, J L Westropp, A J Fascetti
Findings in humans and rats indicate that hyperlipidaemia may be associated with enhanced endogenous oxalate (Ox) synthesis, which may be relevant for calcium oxalate (CaOx) urolith formation. Moreover, changes in lipid metabolism are proposed to negatively affect gut microbiota. This study aimed to investigate those potential interactions in hyperlipidaemic cats. Therefore, 10 normal control cats and seven lipoprotein lipase (LPL)-deficient cats were fed a low-fat diet for seven weeks. During the last week of the study, cats were housed in metabolic cages to collect urine and faeces...
May 11, 2017: Journal of Animal Physiology and Animal Nutrition
https://www.readbyqxmd.com/read/28438574/extreme-hypertriglyceridemia-pseudohyponatremia-and-pseudoacidosis-in-a-neonate-with-lipoprotein-lipase-deficiency-due-to-segmental-uniparental-disomy
#12
Ambika P Ashraf, Anna C E Hurst, Abhimanyu Garg
Extreme hypertriglyceridemia is rare in the neonatal period. We report a neonate with lipoprotein lipase (LPL) deficiency who presented with diagnostic and management conundrum. A full-term 36-day-old female was noted to have "Pepto-Bismol like" blood when repeating a newborn screening. The initial plasma triglyceride level was 24,318 mg/dL. The laboratory tests revealed serum bicarbonate level of <5 mmol/L, sodium of 127 mmol/L, and severe anemia. There were no signs of acute distress. The point of care capillary blood testing, however, demonstrated normal serum pH (7...
April 3, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28430962/ulk1-prevents-cardiac-dysfunction-in-obesity-through-autophagy-meditated-regulation-of-lipid-metabolism
#13
Minae An, Dong-Ryeol Ryu, Jang Won Park, Ji Ha Choi, Eun-Mi Park, Kyung Eun Lee, Minna Woo, Minsuk Kim
Aims: Autophagy is essential to maintain tissue homeostasis, particularly in long-lived cells such as cardiomyocytes. Whereas many studies support the importance of autophagy in the mechanisms underlying obesity-related cardiac dysfunction, the role of autophagy in cardiac lipid metabolism remains unclear. In the heart, lipotoxicity is exacerbated by cardiac lipoprotein lipase (LPL), which mediates accumulation of fatty acids to the heart through intravascular triglyceride (TG) hydrolysis...
August 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28427397/hvc1-ameliorates-hyperlipidemia-and-inflammation-in-ldlr-mice
#14
Se-Yun Cheon, Kyung-Sook Chung, Kyung-Jin Lee, Ho-Young Choi, In-Hye Ham, Dong-Hoon Jung, Yun-Yeop Cha, Hyo-Jin An
BACKGROUND: HVC1 consists of Coptidis Rhizoma (dried rhizome of Coptischinensis), Scutellariae Radix (root of Scutellariabaicalensis), Rhei Rhizoma (rhizome of Rheum officinale), and Pruni Cortex (cortex of Prunusyedoensis Matsum). Although the components are known to be effective in various conditions such as inflammation, hypertension, and hypercholesterolemia, there are no reports of the molecular mechanism of its hypolipidemic effects. METHODS: We investigated the hypolipidemic effect of HVC1 in low-density lipoprotein receptor-deficient (LDLR(-/-)) mice fed a high-cholesterol diet for 13 weeks...
April 20, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28404638/kidney-triglyceride-accumulation-in-the-fasted-mouse-is-dependent-upon-serum-free-fatty-acids
#15
Diego Scerbo, Ni-Huiping Son, Alaa Sirwi, Lixia Zeng, Kelli M Sas, Vincenza Cifarelli, Gabriele Schoiswohl, Lesley-Ann Huggins, Namrata Gumaste, Yunying Hu, Subramaniam Pennathur, Nada A Abumrad, Erin E Kershaw, M Mahmood Hussain, Katalin Susztak, Ira J Goldberg
Lipid accumulation is a pathological feature of every type of kidney injury. Despite this striking histological feature, physiological accumulation of lipids in the kidney is poorly understood. We studied whether the accumulation of lipids in the fasted kidney are derived from lipoproteins or NEFAs. With overnight fasting, kidneys accumulated triglyceride, but had reduced levels of ceramide and glycosphingolipid species. Fasting led to a nearly 5-fold increase in kidney uptake of plasma [(14)C]oleic acid. Increasing circulating NEFAs using a β adrenergic receptor agonist caused a 15-fold greater accumulation of lipid in the kidney, while mice with reduced NEFAs due to adipose tissue deficiency of adipose triglyceride lipase had reduced triglycerides...
June 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28402248/autoantibodies-against-gpihbp1-as-a-cause-of-hypertriglyceridemia
#16
Anne P Beigneux, Kazuya Miyashita, Michael Ploug, Dirk J Blom, Masumi Ai, MacRae F Linton, Weerapan Khovidhunkit, Robert Dufour, Abhimanyu Garg, Maureen A McMahon, Clive R Pullinger, Norma P Sandoval, Xuchen Hu, Christopher M Allan, Mikael Larsson, Tetsuo Machida, Masami Murakami, Karen Reue, Peter Tontonoz, Ira J Goldberg, Philippe Moulin, Sybil Charrière, Loren G Fong, Katsuyuki Nakajima, Stephen G Young
BACKGROUND: A protein that is expressed on capillary endothelial cells, called GPIHBP1 (glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1), binds lipoprotein lipase and shuttles it to its site of action in the capillary lumen. A deficiency in GPIHBP1 prevents lipoprotein lipase from reaching the capillary lumen. Patients with GPIHBP1 deficiency have low plasma levels of lipoprotein lipase, impaired intravascular hydrolysis of triglycerides, and severe hypertriglyceridemia (chylomicronemia)...
April 27, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28395380/streptozotocin-treated-high-fat-fed-mice-a-new-type-2-diabetes-model-used-to-study-canagliflozin-induced-alterations-in-lipids-and-lipoproteins
#17
Tian Yu, Mitchell J Sungelo, Ira J Goldberg, Hong Wang, Robert H Eckel
The pharmacological effects of type 2 diabetes (T2DM) medications on lipoprotein metabolism are difficult to assess in preclinical models because those created failure to replicate the human condition in which insulin deficiency is superimposed on obesity-related insulin resistance. To create a better model, we fed mice with high fat (HF) diet and treated the animals with low dose streptozotocin (STZ) to mimic T2DM. We used this model to evaluate the effects of canagliflozin (CANA), a drug that reduces plasma glucose by inhibiting the sodium-glucose transporter 2 (SGLT2), which mediates ~90% of renal glucose reabsorption] on lipid and lipoprotein metabolism...
May 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28391883/childhood-adult-onset-lysosomal-acid-lipase-deficiency-a-serious-metabolic-and-vascular-phenotype-beyond-liver-disease-four-new-pediatric-cases
#18
Pierre Poinsot, Sophie Collardeau Frachon, Lioara Restier, André Sérusclat, Mathilde Di Filippo, Sybil Charrière, Philippe Moulin, Alain Lachaux, Noel Peretti
BACKGROUND: The childhood/adult-onset lysosomal acid lipase deficiency (LALD; late-onset LALD) is a rare genetic disease. Children present severe fatty liver disease with early cirrhosis. Before enzyme replacement therapy, statins were the standard treatment to improve the severe dyslipidemia. However, late-onset LALD should be considered as a systemic metabolic disease: chronic hyper-low-density lipoprotein and hypo-high-density lipoprotein cholesterolemia induces early atherosclerosis in addition to the liver morbidity...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28389321/cardiovascular-gene-therapy-past-present-and-future
#19
REVIEW
Seppo Ylä-Herttuala, Andrew H Baker
Cardiovascular diseases remain a large global health problem. Although several conventional small-molecule treatments are available for common cardiovascular problems, gene therapy is a potential treatment option for acquired and inherited cardiovascular diseases that remain with unmet clinical needs. Among potential targets for gene therapy are severe cardiac and peripheral ischemia, heart failure, vein graft failure, and some forms of dyslipidemias. The first approved gene therapy in the Western world was indicated for lipoprotein lipase deficiency, which causes high plasma triglyceride levels...
May 3, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28327359/regulation-of-secretion-and-enzymatic-activity-of-lipoprotein-lipase-by-c-mannosylation
#20
Sawako Okamoto, Takeyoshi Murano, Takehiro Suzuki, Shiho Uematsu, Yuki Niwa, Yukiko Sasazawa, Naoshi Dohmae, Hideaki Bujo, Siro Simizu
Lipoprotein lipase (LPL) is a crucial enzyme in lipid metabolism and transport, and its enzymatic deficiency causes metabolic disorders, such as hypertriglyceridemia. LPL has one predicted C-mannosylation site at Trp(417). In this study, we demonstrated that LPL is C-mannosylated at Trp(417) by mass spectrometry. Furthermore, by using wild-type and a C-mannosylation-defective mutant of LPL-overexpressing cell lines, we revealed that both secretion efficiency and enzymatic activity of C-mannosylation-defective mutant LPL were lower than those of wild-type...
April 29, 2017: Biochemical and Biophysical Research Communications
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