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Lysosomal acid lipase

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https://www.readbyqxmd.com/read/27878737/sebelipase-alfa-a-review-in-lysosomal-acid-lipase-deficiency
#1
James E Frampton
Sebelipase alfa (Kanuma(®), Kanuma™), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D), an ultra-rare, autosomal recessive, progressive metabolic liver disease. In an ongoing study in nine infants presenting with early-onset LAL-D (Wolman disease), open-label treatment with sebelipase alfa significantly improved 1-year survival compared with historical controls...
November 23, 2016: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/27876313/lysosomal-acid-lipase-deficiency-expanding-differential-diagnosis
#2
Vassili Valayannopoulos, Eugen Mengel, Anais Brassier, Gregory Grabowski
The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominately in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL-D is a progressive, multi-organ disease with early mortality and significant morbidity characterized by a combination of hepatic dysfunction and dyslipidemia...
November 10, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27799810/novel-treatment-options-for-lysosomal-acid-lipase-deficiency-critical-appraisal-of-sebelipase-alfa
#3
REVIEW
Kim Su, Emma Donaldson, Reena Sharma
Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabolism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives rise to pathological accumulation of cholesterol esters in various tissues. A severe LAL-D phenotype manifesting in infancy is associated with adrenal calcification and liver and gastrointestinal involvement with characteristic early mortality. LAL-D presenting in childhood and adulthood is associated with hepatomegaly, liver fibrosis, cirrhosis, and premature atherosclerosis...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27662254/lysosomal-lipases-plrp2-and-lpla2-process-mycobacterial-multi-acylated-lipids-and-generate-t-cell-stimulatory-antigens
#4
Martine Gilleron, Marco Lepore, Emilie Layre, Diane Cala-De Paepe, Naila Mebarek, James A Shayman, Stéphane Canaan, Lucia Mori, Frédéric Carrière, Germain Puzo, Gennaro De Libero
Complex antigens require processing within antigen-presenting cells (APCs) to form T cell stimulatory complexes with CD1 antigen-presenting molecules. It remains unknown whether lipids with multi-acylated moieties also necessitate digestion by lipases to become capable of binding CD1 molecules and stimulate T cells. Here, we show that the mycobacterial tetra-acylated glycolipid antigens phosphatidyl-myo-inositol mannosides (PIM) are digested to di-acylated forms by pancreatic lipase-related protein 2 (PLRP2) and lysosomal phospholipase A2 (LPLA2) within APCs...
September 22, 2016: Cell Chemical Biology
https://www.readbyqxmd.com/read/27659423/a-novel-transgenic-mouse-model-of-lysosomal-storage-disorder
#5
Sonia Ortiz-Miranda, Rui Ji, Agata Jurczyk, Ken-Edwin Aryee, Shunyan Mo, Terry Fletcher, Scott A Shaffer, Dale L Greiner, Rita Bortell, Ronald G Gregg, Alan Cheng, Leah J Hennings, Ann R Rittenhouse
Knockout technology has proven useful for delineating functional roles of specific genes. Here we describe and provide an explanation for striking pathology that occurs in a subset of genetically engineered mice expressing a rat CaVβ2a transgene under control of the cardiac α-myosin heavy chain promoter. Lesions were limited to mice homozygous for transgene and independent of native Cacnb2 genomic copy number. Gross findings included an atrophied pancreas; decreased adipose tissue; thickened, orange intestines; and enlarged liver, spleen, and abdominal lymph nodes...
November 1, 2016: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/27649344/sebelipase-alfa-kanuma-for-lysosomal-acid-lipase-deficiency
#6
(no author information available yet)
No abstract text is available yet for this article.
September 26, 2016: Medical Letter on Drugs and Therapeutics
https://www.readbyqxmd.com/read/27646002/cell-surface-cd36-protein-in-monocyte-macrophage-contributes-to-phagocytosis-during-the-resolution-phase-of-ischemic-stroke-in-mice
#7
Moon-Sook Woo, Jiwon Yang, Cesar Beltran, Sunghee Cho
Infiltrating monocyte-derived macrophages (M-MΦ) influence stroke-induced brain injury. Although the inflammatory nature of M-MΦ in acute stroke has been well documented, their role during the resolution phase of stroke is less clear. With emerging evidence for the involvement of scavenger receptors in innate immunity, this study addresses an M-MΦ CD36 role in mediating phagocytosis during the recovery phase of stroke. Stroke increases CD36 and TSP-1/2 mRNA levels in the ipsilateral hemisphere at acute (3-day (d)) and recovery (7d) periods...
November 4, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27624512/lysosomal-acid-lipase-deficiency-unmasked-in-two-children-with-nonalcoholic-fatty-liver-disease
#8
Ryan W Himes, Sarah E Barlow, Kevin Bove, Norma M Quintanilla, Rachel Sheridan, Rohit Kohli
Lysosomal acid lipase deficiency (LAL-D) is a classic lysosomal storage disorder characterized by accumulation of cholesteryl ester and triglyceride. Although it is associated with progressive liver injury, fibrosis, and end-stage liver disease in children and adolescents, LAL-D frequently presents with nonspecific signs that overlap substantially with other, more common, chronic conditions like nonalcoholic fatty liver disease (NAFLD), metabolic syndrome, and certain inherited dyslipidemias. We present 2 children with NAFLD who achieved clinically significant weight reduction through healthy eating and exercise, but who failed to have the anticipated improvements in aminotransferases and γ-glutamyl transferase...
September 13, 2016: Pediatrics
https://www.readbyqxmd.com/read/27531897/lysosomal-acid-lipase-in-mesenchymal-stem-cell-stimulation-of-tumor-growth-and-metastasis
#9
Ting Zhao, Cong Yan, Hong Du
Bone marrow mesenchymal stem cells (MSCs) are an important participant in the tumor microenvironment, in which they promote tumor growth and progression. Here we report for the first time that depletion of lysosomal acid lipase (LAL) in MSCs impairs their abilities to stimulate tumor growth and metastasis both in allogeneic and syngeneic mouse models. Reduced cell viability was observed in LAL-deficient (lal-/-) MSCs, which was a result of both increased apoptosis and decreased proliferation due to cell cycle arrest...
August 12, 2016: Oncotarget
https://www.readbyqxmd.com/read/27499717/management-of-lysosomal-acid-lipase-deficiency-for-the-gastroenterologist-and-hepatologist
#10
Stephen A Harrison
No abstract text is available yet for this article.
May 2016: Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/27461363/lung-epithelial-cell-specific-expression-of-human-lysosomal-acid-lipase-ameliorates-lung-inflammation-and-tumor-metastasis-in-lipa-mice
#11
Ting Zhao, Xinchun Ding, Hong Du, Cong Yan
Lysosomal acid lipase (LAL), a key enzyme in the metabolic pathway of neutral lipids, has a close connection with inflammation and tumor progression. One major manifestation in LAL-deficient (Lipa(-/-)) mice is an increase of tumor growth and metastasis associated with expansion of myeloid-derived suppressor cells. In the lung, LAL is highly expressed in alveolar type II epithelial cells. To assess how LAL in lung epithelial cells plays a role in this inflammation-related pathogenic process, lung alveolar type II epithelial cell-specific expression of human LAL (hLAL) in Lipa(-/-) mice was established by crossbreeding of CCSP-driven rtTA transgene and (TetO)7-CMV-hLAL transgene into Lipa(-/-) mice (CCSP-Tg/KO)...
August 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27423329/sequencing-for-lipa-mutations-in-patients-with-a-clinical-diagnosis-of-familial-hypercholesterolemia
#12
Barbara Sjouke, Joep C Defesche, Janine S E de Randamie, Albert Wiegman, Sigrid W Fouchier, G Kees Hovingh
BACKGROUND AND AIMS: We recently identified lysosomal acid lipase (LAL) deficiency, a recessive disease caused by mutations in LIPA, in 3 patients with a clinical diagnosis of familial hypercholesterolemia (FH). We aimed to determine the prevalence of LIPA mutations among individuals with a clinical FH diagnosis. METHODS: In 276 patients with phenotypic FH, in whom no genetic basis for their phenotype was found, LIPA was sequenced. All variants were assessed for pathogenicity using a literature search and in silico prediction models...
August 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27392817/successful-long-term-outcome-of-liver-transplantation-in-late-onset-lysosomal-acid-lipase-deficiency
#13
S Sreekantam, I Nicklaus-Wollenteit, J Orr, K Sharif, S Vijay, P J McKiernan, S Santra
Late-onset LAL deficiency, previously referred to as cholesteryl ester storage disorder, is a rare lysosomal storage disorder characterized by accumulation of cholesteryl esters. It has a heterogeneous clinical phenotype including abdominal pain, poor growth, hyperlipidemia with vascular complications and hepatosplenomegaly. End-stage liver disease may occur, but there are few reports of successful LT. There are also concerns that systemic manifestations of the disease might persist post-LT. We report a case with excellent outcome eight yr following LT...
September 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27376161/sebelipase-alfa-enzymatic-replacement-treatment-for-lysosomal-acid-lipase-deficiency
#14
REVIEW
D M Paton
Sebelipase alfa was approved for use in 2015 for patients suffering from lysosomal acid lipase deficiency in either of its two forms. The more severe, early-onset form, Wolman disease, occurs in young infants in whom it is normally fatal within the first year of life. Sebelipase alfa has allowed a small number of such infants to achieve a relatively normal growth rate and to survive for 2 or more years. In older children and adults, the enzyme has corrected their dyslipidemia and produced significant improvement in markers of hepatic function...
May 2016: Drugs of Today
https://www.readbyqxmd.com/read/27365163/regulation-and-functions-of-autophagic-lipolysis
#15
REVIEW
Francesca Cingolani, Mark J Czaja
The selective breakdown by autophagy of lipid droplet (LD)-stored lipids, termed lipophagy, is a lysosomal lipolytic pathway that complements the actions of cytosolic neutral lipases. The physiological importance of lipophagy has been demonstrated in multiple mammalian cell types, as well as in lower organisms, and this pathway has many functions in addition to supplying free fatty acids to maintain cellular energy stores. Recent studies have begun to delineate the molecular mechanisms of the selective recognition of LDs by the autophagic machinery, as well as the intricate crosstalk between the different forms of autophagy and neutral lipases...
October 2016: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/27354281/lysosomal-acid-lipase-hydrolyzes-retinyl-ester-and-affects-retinoid-turnover
#16
Lukas Grumet, Thomas O Eichmann, Ulrike Taschler, Kathrin A Zierler, Christina Leopold, Tarek Moustafa, Branislav Radovic, Matthias Romauch, Cong Yan, Hong Du, Guenter Haemmerle, Rudolf Zechner, Peter Fickert, Dagmar Kratky, Robert Zimmermann, Achim Lass
Lysosomal acid lipase (LAL) is essential for the clearance of endocytosed cholesteryl ester and triglyceride-rich chylomicron remnants. Humans and mice with defective or absent LAL activity accumulate large amounts of cholesteryl esters and triglycerides in multiple tissues. Although chylomicrons also contain retinyl esters (REs), a role of LAL in the clearance of endocytosed REs has not been reported. In this study, we found that murine LAL exhibits RE hydrolase activity. Pharmacological inhibition of LAL in the human hepatocyte cell line HepG2, incubated with chylomicrons, led to increased accumulation of REs in endosomal/lysosomal fractions...
August 19, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27346059/amber-light-590%C3%A2-nm-induces-the-breakdown-of-lipid-droplets-through-autophagy-related-lysosomal-degradation-in-differentiated-adipocytes
#17
Min Sik Choi, Hyoung-June Kim, Mira Ham, Dong-Hwa Choi, Tae Ryong Lee, Dong Wook Shin
Lipolysis in the adipocytes provides free fatty acids for other tissues in response to the energy demand. With the rapid increase in obesity-related diseases, finding novel stimuli or mechanisms that regulate lipid metabolism becomes important. We examined the effects of visible light (410, 457, 505, 530, 590, and 660 nm) irradiation on lipolysis regulation in adipocytes differentiated from human adipose-derived stem cells (ADSCs). Interestingly, 590 nm (amber) light irradiation significantly reduced the concentration of lipid droplets (LDs)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27341145/telemetric-control-of-peripheral-lipophagy-by-hypothalamic-autophagy
#18
Nuria Martinez-Lopez, Rajat Singh
Autophagy maintains cellular quality control by degrading organelles, and cytosolic proteins and their aggregates in lysosomes. Autophagy also degrades lipid droplets (LD) through a process termed lipophagy. During lipophagy, LD are sequestered within autophagosomes and degraded by lysosomal acid lipases to generate free fatty acids that are β-oxidized for energy. Lipophagy was discovered in hepatocytes, and since then has been shown to function in diverse cell types. Whether lipophagy degrades LD in the major fat storing cell-the adipocyte-remained unclear...
August 2, 2016: Autophagy
https://www.readbyqxmd.com/read/27319346/the-processing-and-presentation-of-lipids-and-glycolipids-to-the-immune-system
#19
REVIEW
Vincent F Vartabedian, Paul B Savage, Luc Teyton
The recognition of CD1-lipid complexes by T cells was discovered 20 years ago and has since been an emerging and expanding field of investigation. Unlike protein antigens, which are presented on MHC class I and II molecules, lipids can only be presented by CD1 molecules, a unique family of MHC-like proteins whose singularity is a hydrophobic antigen-binding groove. The processing and loading of lipid antigens inside this groove of CD1 molecules require localization to endosomal and lysosomal subcellular compartments and their acidic pHs...
July 2016: Immunological Reviews
https://www.readbyqxmd.com/read/27219619/lysosomal-acid-lipase-activity-is-reduced-both-in-cryptogenic-cirrhosis-and-in-cirrhosis-of-known-etiology
#20
Umberto Vespasiani-Gentilucci, Paolo Gallo, Fiorella Piemonte, Elisabetta Riva, Aldostefano Porcari, Ferruccio Vorini, Giulia Tozzi, Livia Piccioni, Giovanni Galati, Antonio De Vincentis, Simone Carotti, Sergio Morini, Jessica D'Amico, Silvia Angeletti, Claudio Pedone, Antonio Picardi
Liver cirrhosis is characterized by a severe acquired reduction of LAL-activity, the precise causes and consequences of which need to be further addressed. DBS-determined lysosomal enzyme activities seem to be affected by white blood cell and platelet counts, and the specificity of these tests can be reduced when applied to determined populations, such as cirrhotics.
2016: PloS One
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