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Lysosomal acid lipase

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https://www.readbyqxmd.com/read/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#1
Sumayah Aljenedil, Isabelle Ruel, Kevin Watters, Jacques Genest
BACKGROUND: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#2
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29762191/endoscopic-findings-in-lysosomal-acid-lipase-deficiency
#3
Sandra Obikawa Kyosen, Stephan Geocze, Marcelo Hideki Yamamoto, Ana Maria Martins
No abstract text is available yet for this article.
May 14, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29731497/lysosomal-acid-lipase-deficiency-in-japan-a-case-report-of-siblings-and-a-literature-review-of-cases-in-japan
#4
Naoyuki Ikari, Akira Shimizu, Takeshi Asano
We report on two siblings with early onset lysosomal acid lipase deficiency or Wolman disease. Their parents had a consanguineous marriage. The children showed evidence of abdominal distension and failed to thrive, despite having regular nutrition. At 3-4 months of age, their abdominal distension and jaundice progressed rapidly and they died of liver failure. Sebelipase alfa, a recombinant form of human lysosomal acid lipase has recently been used as an enzyme replacement therapy in patients with later-onset cholesteryl ester storage disease...
2018: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/29705274/early-onset-lysosomal-acid-lipase-deficiency-presenting-as-secondary-hemophagocytic-lymphohistiocytosis-two-infants-treated-with-sebelipase-alfa
#5
Ermelinda Santos Silva, Maja Klaudel-Dreszler, Agnieska Bakuła, Teresa Oliva, Tereza Sousa, Paula Cristina Fernandes, Anna Tylki-Szymańska, Elena Kamenets, Esmeralda Martins, Piotr Socha
Two unrelated infants were diagnosed with and initially treated for hemophagocytic lymphohistiocytosis (HLH), but progressed to cholestasis and liver failure. Early onset lysosomal acid lipase deficiency (EO-LAL-D) was suspected due to lymphocytes with cytoplasmic vacuolation and/or adrenal calcifications and confirmed by enzymatic and genetic analysis. Enzyme replacement therapy with sebelipase alfa was implemented, but both children died, despite initial improvement. Since this inborn error of metabolism progresses rapidly in infants, early diagnosis is crucial, and appropriate treatment should be started as soon as possible...
April 25, 2018: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/29655841/lysosomal-acid-lipase-deficiency-allograft-recurrence-and-liver-failure-clinical-outcomes-of-18-liver-transplantation-patients
#6
REVIEW
Donna Lee Bernstein, Steven Lobritto, Alina Iuga, Helen Remotti, Thomas Schiano, Maria Isabel Fiel, Manisha Balwani
Lysosomal acid lipase deficiency (LAL-D) results in progressive microvesicular hepatosteatosis, fibrosis, cirrhosis, dyslipidemia, and vascular disease. Interventions available prior to enzyme replacement therapy development, including lipid lowering medications, splenectomy, hematopoietic stem cell and liver transplantation were unsuccessful at preventing multi-systemic disease progression, and were associated with significant morbidity and mortality. We report two sisters, diagnosed in infancy, who succumbed to LAL-D with accelerated disease progression following splenectomy and liver transplantation...
March 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29628368/sebelipase-alfa-improves-atherogenic-biomarkers-in-adults-and-children-with-lysosomal-acid-lipase-deficiency
#7
Don P Wilson, Mark Friedman, Sachin Marulkar, Tyler Hamby, Eric Bruckert
BACKGROUND: Measures of atherogenic cholesterol, with and without concomitant use of lipid-lowering medications (LLMs), are reported with up to 52 weeks of sebelipase alfa treatment in children and adults with lysosomal acid lipase deficiency (LAL-D) participating in the phase 3 Acid Lipase Replacement Investigating Safety and Efficacy study (NCT01757184). OBJECTIVE: To examine the effects of sebelipase alfa on levels of atherogenic biomarkers in the Acid Lipase Replacement Investigating Safety and Efficacy study...
March 9, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29599133/lal-lysosomal-acid-lipase-promotes-reverse-cholesterol-transport-in-vitro-and-in-vivo
#8
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/29569766/lysosomal-acid-lipase-promotes-cholesterol-ester-metabolism-and-drives-clear-cell-renal-cell-carcinoma-progression
#9
Jun Wang, Mingyue Tan, Jifu Ge, Ping Zhang, Jie Zhong, Le Tao, Qiong Wang, Xuemei Tong, Jianxin Qiu
OBJECTIVES: Clear cell renal cell carcinoma (ccRCC) is characterized histologically by accumulation of cholesterol esters, cholesterol and other neutral lipids. Lysosomal acid lipase (LAL) is a critical enzyme involved in the cholesterol ester metabolism. Here, we sought to determine whether LAL could orchestrate metabolism of cholesterol esters in order to promote ccRCC progression. MATERIALS AND METHODS: Quantitative reverse-transcription PCR and western blots were conducted to assess the expression of LAL in human ccRCC tissues...
March 23, 2018: Cell Proliferation
https://www.readbyqxmd.com/read/29547398/lysosomal-acid-lipase-and-lipid-metabolism-new-mechanisms-new-questions-and-new-therapies
#10
Hanrui Zhang
PURPOSE OF REVIEW: Lysosomal acid lipase (LAL), encoded by the LIPA gene, is an essential lysosomal enzyme that hydrolyzes cholesteryl ester and triglyceride delivered to the lysosome. This review highlights the novel pathophysiological role of LAL, the functional genomic discoveries of LIPA as a risk locus for coronary heart diseases (CHD), and the clinical advance in therapies for LAL deficiency. RECENT FINDINGS: The essential role of LAL in lipid metabolism has been confirmed in human and mice with LAL deficiency...
June 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29535442/benefit-of-treatment-with-sebelipase-alfa-in-a-63-year-old-patient-with-advanced-liver-and-atherosclerotic-disease-due-to-lysosomal-acid-lipase-deficiency-lal-d
#11
Elmar Aigner, Alexandra Feldman, Daniel Neureiter, Christian Datz, Vlad Ratziu, Bernhard Paulweber
No abstract text is available yet for this article.
March 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29527374/lysosomal-acid-lipase-deficiency-report-of-five-cases-across-the-age-spectrum
#12
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29523554/lysosomal-cholesterol-hydrolysis-couples-efferocytosis-to-anti-inflammatory-oxysterol-production
#13
Manon Viaud, Stoyan Ivanov, Nemanja Vujic, Madalina Duta-Mare, Lazaro-Emilio Aira, Thibault Barouillet, Elsa Garcia, Francois Orange, Isabelle Dugail, Isabelle Hainault, Christian Stehlik, Sandrine Marchetti, Laurent Boyer, Rodolphe Guinamard, Fabienne Foufelle, Andrea Bochem, Kees G Hovingh, Edward B Thorp, Emmanuel L Gautier, Dagmar Kratky, Paul Dasilva-Jardine, Laurent Yvan-Charvet
RATIONALE: Macrophages face a substantial amount of cholesterol after the ingestion of apoptotic cells, and the LIPA (lysosomal acid lipase) has a major role in hydrolyzing cholesteryl esters in the endocytic compartment. OBJECTIVE: Here, we directly investigated the role of LIPA-mediated clearance of apoptotic cells both in vitro and in vivo. METHODS AND RESULTS: We show that LIPA inhibition causes a defective efferocytic response because of impaired generation of 25-hydroxycholesterol and 27-hydroxycholesterol...
May 11, 2018: Circulation Research
https://www.readbyqxmd.com/read/29475941/genetic-disruption-of-multiple-%C3%AE-1-2-mannosidases-generates-mammalian-cells-producing-recombinant-proteins-with-high-mannose-type-n-glycans
#14
Ze-Cheng Jin, Toshihiko Kitajima, Weijie Dong, Yi-Fan Huang, Wei-Wei Ren, Feng Guan, Yasunori Chiba, Xiao-Dong Gao, Morihisa Fujita
Recombinant therapeutic proteins are becoming very important pharmaceutical agents for treating intractable diseases. Most biopharmaceutical proteins are produced in mammalian cells because this ensures correct folding and glycosylation for protein stability and function. However, protein production in mammalian cells has several drawbacks, including heterogeneity of glycans attached to the produced protein. In this study, we established cell lines with high-mannose-type N -linked, low-complexity glycans. We first knocked out two genes encoding Golgi mannosidases ( MAN1A1 and MAN1A2 ) in HEK293 cells...
April 13, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29470638/long-term-effects-of-low-dose-mouse-liver-irradiation-involve-ultrastructural-and-biochemical-changes-in-hepatocytes-that-depend-on-lipid-metabolism
#15
Malgorzata Lysek-Gladysinska, Anna Wieczorek, Anna Walaszczyk, Karol Jelonek, Artur Jozwik, Monika Pietrowska, Wolfgang Dörr, Dorota Gabrys, Piotr Widlak
The aim of the study was to investigate long-term effects of radiation on the (ultra)structure and function of the liver in mice. The experiments were conducted on wild-type C57BL/6J and apolipoprotein E knock-out (ApoE-/- ) male mice which received a single dose (2 or 8 Gy) of X-rays to the heart with simultaneous exposure of liver to low doses (no more than 30 and 120 mGy, respectively). Livers were collected for analysis 60 weeks after irradiation and used for morphological, ultrastructural, and biochemical studies...
May 2018: Radiation and Environmental Biophysics
https://www.readbyqxmd.com/read/29447902/the-erythrocyte-osmotic-resistance-test-as-screening-tool-for-cholesterol-related-lysosomal-storage-diseases
#16
Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Ralf Köhler, Pilar Giraldo
BACKGROUND: Erythrocyte volume regulation and membrane elasticity are essential for adaptation to osmotic and mechanical stress, and life span. Here, we evaluated whether defective cholesterol trafficking caused by the rare lysosomal storages diseases (LSDs), Niemann-Pick type C (NPC) and Lysosomal acid lipase (LAL) deficiency (LALD) impairs these properties. Moreover, we tested whether measurements of cholesterol membrane content and osmotic resistance serve as a screening test for these LSDs...
May 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29394260/healthcare-resource-use-and-costs-of-managing-children-and-adults-with-lysosomal-acid-lipase-deficiency-at-a-tertiary-referral-centre-in-the-united-kingdom
#17
Julian F Guest, Andy Ingram, Nadia Ayoub, Christian J Hendriksz, Elaine Murphy, Yusof Rahman, Patrick McKiernan, Helen Mundy, Patrick Deegan
OBJECTIVE: To estimate clinical progression and resource utilisation together with the associated costs of managing children and adults with LAL Deficiency, at a tertiary referral centre in the UK. METHODS: A retrospective chart review was undertaken of patients in the UK with a confirmed diagnosis of LAL Deficiency who were managed at a LAL Deficiency tertiary referral treatment centre. Patients' pathways, treatment patterns, health outcomes and resource use were quantified over differing lengths of time for each patient enabling the NHS cost of patient management in tertiary care to be estimated...
2018: PloS One
https://www.readbyqxmd.com/read/29374543/lysosomal-acid-lipase-regulates-fatty-acid-channeling-in-brown-adipose-tissue-to-maintain-thermogenesis
#18
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
#19
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/29366205/lysosomal-acid-lipase-and-thermoregulation-during-cold-exposure
#20
Madalina Duta-Mare, Vinay Sachdev, Nemanja Vujic, Katharina Huber, Wenmin Xia, Melanie Korbelius, Dagmar Kratky
No abstract text is available yet for this article.
August 2017: Atherosclerosis
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