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Enzyme deficiency in cholesteryl ester storage disease

Howard R. Sloan, Donald S. Fredrickson

Howard R. Sloan, Donald S. Fredrickson

Published July 1, 1972
Citation Information: J Clin Invest. 1972;51(7):1923-1926. https://doi.org/10.1172/JCI106997.

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Citations to this article (114)

Title and authors	Publication	Year
Metabolic changes and propensity for inflammation, fibrosis, and cancer in livers of mice lacking lysosomal acid lipase. Bradić I, Liesinger L, Kuentzel KB, Vujić N, Trauner M, Birner-Gruenberger R, Kratky D	Journal of lipid research	2023
Loss of lysosomal acid lipase results in mitochondrial dysfunction and fiber switch in skeletal muscles of mice. Akhmetshina A, Bianco V, Bradić I, Korbelius M, Pirchheim A, Kuentzel KB, Eichmann TO, Hinteregger H, Kolb D, Habisch H, Liesinger L, Madl T, Sattler W, Radović B, Sedej S, Birner-Gruenberger R, Vujić N, Kratky D	Molecular Metabolism	2023
Molecular markers of brain cholesterol homeostasis are unchanged despite a smaller brain mass in a mouse model of cholesteryl ester storage disease AA Aqul, CM Ramirez, AM Lopez, DK Burns, JJ Repa, SD Turley	Lipids	2021
Silencing of ATG6 and ATG8 promotes increased levels of triacylglycerol (TAG) in the fat body during prolonged starvation periods in the Chagas disease vector Rhodnius prolixus S Santos-Araujo, L Bomfim, LO Araripe, R Bruno, I Ramos, KC Gondim	Insect Biochemistry and Molecular Biology	2020
Lysosomal acid lipase deficiency - early diagnosis is the key. Strebinger G, Müller E, Feldman A, Aigner E	Hepatic medicine : evidence and research	2019
Hepatocyte-specific lysosomal acid lipase deficiency protects mice from diet-induced obesity but promotes hepatic inflammation C Leopold, M Duta-Mare, V Sachdev, M Goeritzer, LK Maresch, D Kolb, H Reicher, B Wagner, T Stojakovic, T Ruelicke, G Haemmerle, G Hoefler, W Sattler, D Kratky	Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids	2019
Lysosomal acid lipase regulates fatty acid channeling in brown adipose tissue to maintain thermogenesis M Duta-Mare, V Sachdev, C Leopold, D Kolb, N Vujic, M Korbelius, DC Hofer, W Xia, K Huber, M Auer, B Gottschalk, C Magnes, WF Graier, A Prokesch, B Radovic, JG Bogner-Strauss, D Kratky	Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids	2018
Impact of loss of SOAT2 function on disease progression in the lysosomal acid lipase-deficient mouse AM Lopez, JC Chuang, SD Turley	Steroids	2018
An optical nanoreporter of endolysosomal lipid accumulation reveals enduring effects of diet on hepatic macrophages in vivo TV Galassi, PV Jena, J Shah, G Ao, E Molitor, Y Bram, A Frankel, J Park, J Jessurun, DS Ory, A Haimovitz-Friedman, D Roxbury, J Mittal, M Zheng, RE Schwartz, DA Heller	Science Translational Medicine	2018
Breaking fat: The regulation and mechanisms of lipophagy RJ Schulze, A Sathyanarayan, DG Mashek	Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids	2017
Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency JJ Maciejko	American Journal Cardiovascular Drugs	2017
Lysosomal acid lipase deficiency in all siblings of the same parents JJ Maciejko, P Anne, S Raza, HJ Lyons	Journal of Clinical Lipidology	2017
Lysosomal acid lipase deficiency: a form of non-obese fatty liver disease (NOFLD) HH A-Kader	Expert Review of Gastroenterology & Hepatology	2017
A Carbon Nanotube Optical Reporter Maps Endolysosomal Lipid Flux PV Jena, D Roxbury, TV Galassi, L Akkari, CP Horoszko, DB Iaea, J Budhathoki-Uprety, N Pipalia, AS Haka, JD Harvey, J Mittal, FR Maxfield, JA Joyce, DA Heller	ACS Nano	2017
Cytosolic lipolysis and lipophagy: two sides of the same coin R Zechner, F Madeo, D Kratky	Nature Reviews Molecular Cell Biology	2017
Continuous transport of a small fraction of plasma membrane cholesterol to endoplasmic reticulum regulates total cellular cholesterol RE Infante, A Radhakrishnan	eLife	2017
Steryl ester synthesis, storage and hydrolysis: A contribution to sterol homeostasis M Korber, I Klein, G Daum	Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids	2017
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? JR Chora, AC Alves, AM Medeiros, C Mariano, G Lobarinhas, A Guerra, H Mansilha, H Cortez-Pinto, M Bourbon	Journal of Clinical Lipidology	2017
Histopathological Findings in Cholesteryl Ester Storage Disease: A Report of Three Cases I Shahramian, E Azimi-khatibi, F Mahjoob, A Sargazi, M Delaramnasab, A Bazi	Gene, Cell and Tissue	2017
Lysosomal acid lipase regulates VLDL synthesis and insulin sensitivity in mice B Radović, N Vujić, C Leopold, S Schlager, M Goeritzer, JV Patankar, M Korbelius, D Kolb, J Reindl, M Wegscheider, T Tomin, R Birner-Gruenberger, M Schittmayer, L Groschner, C Magnes, C Diwoky, S Frank, E Steyrer, H Du, WF Graier, T Madl, D Kratky	Diabetologia	2016
Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa K Su, E Donaldson, R Sharma	The Application of Clinical Genetics	2016
Lysosomal acid lipase: at the crossroads of normal and atherogenic cholesterol metabolism JA Dubland, GA Francis	Frontiers in Cell and Developmental Biology	2015
PRD125, a Potent and Selective Inhibitor of Sterol O-Acyltransferase 2 Markedly Reduces Hepatic Cholesteryl Ester Accumulation and Improves Liver Function in Lysosomal Acid Lipase-Deficient Mice AM Lopez, JC Chuang, KS Posey, T Ohshiro, H Tomoda, LL Rudel, SD Turley	The Journal of pharmacology and experimental therapeutics	2015
Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency V Valayannopoulos, V Malinova, T Honzík, M Balwani, C Breen, PB Deegan, GM Enns, SA Jones, JP Kane, EO Stock, R Tripuraneni, S Eckert, E Schneider, G Hamilton, MS Middleton, C Sirlin, B Kessler, C Bourdon, SA Boyadjiev, R Sharma, C Twelves, CB Whitley, AG Quinn	Journal of Hepatology	2014
Hepatic entrapment of esterified cholesterol drives continual expansion of whole body sterol pool in lysosomal acid lipase-deficient mice A Aqul, AM Lopez, KS Posey, AM Taylor, JJ Repa, DK Burns, SD Turley	AJP Gastrointestinal and Liver Physiology	2014
Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease DL Bernstein, H Hülkova, MG Bialer, RJ Desnick	Journal of Hepatology	2013
The cytosolic adaptor AP-1A is essential for the trafficking and function of Niemann-Pick type C proteins S Poirier, G Mayer, SR Murphy, WS Garver, TY Chang, P Schu, NG Seidah	Traffic (Copenhagen, Denmark)	2013
Pathologie M Stolte, J Rüschoff, G Klöppel	Der Pathologe	2013
Genetic and metabolic liver disease RJ Thompson, BC Portmann, EA Roberts	MacSween s Pathology of the Liver	2012
Inborn Errors of Metabolism that Lead to Permanent Liver Injury FK Ghishan	Zakim and Boyer s Hepatology	2012
Association of LIPA Gene Polymorphisms With Obesity-Related Metabolic Complications Among Severely Obese Patients F Guénard, A Houde, L Bouchard, A Tchernof, Y Deshaies, S Biron, O Lescelleur, L Biertho, S Marceau, L Pérusse, MC Vohl	Obesity	2012
MacSween's Pathology of the Liver RJ Thompson, BC Portmann, EA Roberts	MacSween's Pathology of the Liver	2012
Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches AI Rosenbaum, FR Maxfield	Journal of Neurochemistry	2011
Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly S Dahl, E Mengel	Best Practice & Research Clinical Gastroenterology	2010
Cholesterol Ester Storage Disease (CESD) Diagnosed in an Asymptomatic Adult H Chatrath, S Keilin, BM Attar	Digestive Diseases and Sciences	2008
Atlas of Metabolic Diseases Second edition W Nyhan, B Barshop, P Ozand	Atlas of Metabolic Diseases Second edition	2005
Methods in Cell Biology JW Smith	Methods in cell biology	2002
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease O Zschenker, N Jung, J Rethmeier, S Trautwein, S Hertel, M Zeigler, D Ameis	Journal of lipid research	2001
Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase −1 exon 8 splice junction mutation S Dahl, K Harzer, A Rolfs, B Albrecht, C Niederau, C Vogt, S Weely, J Aerts, G Müller, D Häussinger	Journal of Hepatology	1999
Molecular biology of enzymes involved with cholesterol ester hydrolysis in mammalian tissues DY Hui	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1996
Wolman Disease and Its Treatment M Wolman	Clinical Pediatrics	1995
Characterization of Lysosomal Acid Lipase by Site-directed Mutagenesis and Heterologous Expression S Sheriff, H Du, GA Grabowski	The Journal of biological chemistry	1995
A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease D Ameis, G Brockmann, R Knoblich, M Merkel, RE Ostlund, JW Yang, PM Coates, JA Cortner, SV Feinman, H Greten	Journal of lipid research	1995
Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase D AMEIS, M MERKEL, C ECKERSKORN, H GRETEN	European Journal of Biochemistry	1994
Esterases, Lipases, and Phospholipases MI Mackness, M Clerc		1994
Acid cholesteryl ester hydralase activity of mononuclear leukocytes in patients with non-insulin-dependent diabetes mellitus: studies before and after treatment of diabetes T Onuma, M Tsutsui, A Boku, A Yanada, S Ochiai, K Takebe	Atherosclerosis	1992
Lysosomal acid lipase deficiency in rats: lipid analyses and lipase activities in liver and spleen M Kuriyama, H Yoshida, M Suzuki, J Fujiyama, A Igata	Journal of lipid research	1990
Effects of Calcium Antagonists on Atherogenesis W Kiowski, P Eme, FR Bühler	Clinical and Experimental Hypertension	1989
Lysosomale Enzymaktivität von Monozyten/Makrophagen nach Inkubation mit postprandialem fettreichem Serum und ihre Bedeutung in der Entstehung der Atherosklerose K Henze, G Wolfram	Klinische Wochenschrift	1988
Acid Cholesterol Esterase Activity in the Foam Cells Isolated from Rabbit Experimental Xanthoma Tissues H Kodama, Y Nagao, K Arakawa, H Akiyama, O Akagi, N Nohara	The Journal of Dermatology	1988
[Lysosomal enzyme activity of monocytes/macrophages following incubation with postprandial hyperlipemic serum and its significance for the development of atherosclerosis]. Henze K, Wolfram G	Klinische Wochenschrift	1988
Possible Physiological Roles of Carboxylic Ester Hydrolases FJ Leinweber	Drug Metabolism Reviews	1987
Clinicopathologic conference: Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD) PT Cagle, GD Ferry, AL Beaudet, EP Hawkins, JM Opitz, JF Reynolds	American Journal of Medical Genetics	1986
Genetic Disorders and the Fetus A Milunsky		1986
Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease DR Kelly, JM Hoeg, SJ Demosky, HB Brewer	Biochemical Medicine	1985
Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency JM Hoeg, SJ Demosky, OH Pescovitz, HB Brewer	The American Journal of Human Genetics	1984
Cholesteryl ester hydrolase activity in mononuclear cells from patients with type II hypercholesterolemia FC Hagemenas, LC Manaugh, DR Illingworth, EE Sundberg, FM Yatsu	Atherosclerosis	1984
Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis GT Besley, DM Broadhead, E Lawlor, SR McCann, JD Dempsey, MI Drury, J Crowe	Clinical Genetics	1984
Molecular Basis of Lysosomal Storage Disorders RO Brady	Molecular Basis of Lysosomal Storage Disorders	1984
Neutral triglyceride lipase in macrophages JC Khoo, JE Vance, EM Mahoney, D Jensen, E Wancewicz, D Steinberg	Arteriosclerosis (Dallas, Tex.)	1984
New Comprehensive Biochemistry S Yamamoto	New Comprehensive Biochemistry	1983
How does hypertension accelerate atherosclerosis? A possible mechanism from changes in aortic enzymes E Hayashi, T Tomita	Trends in Pharmacological Sciences	1982
Atherosclerosis: An intracellular deficiency in essential fatty acids DG Cornwell, RV Panganamala	Progress in Lipid Research	1981
Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease BK Burton, SP Reed	The American Journal of Human Genetics	1981
The active site and the phospholipid activation of rat liver lysosomal lipase are not stereospecific A Joutti, P Vainio, JR Brotherus, F Paltauf, PK Kinnunen	Chemistry and Physics of Lipids	1981
Current Topics in Cellular Regulation G Cahill, T Aoki, R Smith	Current Topics in Cellular Regulation	1981
Purification of the lysosomal acid lipase from human liver and its role in lysosomal lipid hydrolysis TG Warner, LM Dambach, JH Shin, JS O'Brien	The Journal of biological chemistry	1981
Separation and characterization of the acid lipase and neutral esterases from human liver TG Warner, LM Dambach, JH Shin, JS O'Brien	The American Journal of Human Genetics	1980
Cholesterylester-Speicherkrankheit U Pfeifer, R Jeschke	Virchows Archiv B Cell Pathology Including Molecular Pathology	1980
Lysosomal acid lipase in cultivated fibroblasts: Characterization of enzyme activity in normal and enzymatically deficient cell lines BK Burton, D Emery, HW Mueller	Clinica Chimica Acta	1980
The effect of oral contraceptives on mononuclear cell cholesteryl ester hydrolase activity FC Hagemenas, FM Yatsu, LC Manaugh	Lipids	1980
Cholesteryl ester hydrolase activity in human symptomatic atherosclerosis FM Yatsu, FC Hagemenas, LC Manaugh, T Galambos	Lipids	1980
Acid cholesterol ester and glycerol ester hydrolase activities W Patsch, R Rindler-Ludwig, S Sailer, H Braunsteiner	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1980
Study of the hydrolysis of 4-methylumbelliferyl oleate by acid lipase and cholesteryl oleate by acid cholesteryl esterase in human leucocytes, fibroblasts and liver JF Koster, H Vaandrager, TJ van Berkel	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1980
Purification and properties of human placental acid lipase BK Burton, HW Mueller	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1980
Lysosomal acid cholesteryl esterase activity in normal and lipid-laden aortic cells NJ Haley, S Fowler, C de Duve	Journal of lipid research	1980
Cholesteryl ester hydrolase activity in human symptomatic atherosclerosis. Yatsu FM, Hagemenas FC, Manaugh LC, Galambos T	Lipids	1980
The effect of oral contraceptives on mononuclear cell cholesteryl ester hydrolase activity. Hagemenas FC, Yatsu FM, Manaugh LC	Lipids	1980
Studies on cholesterol ester formation and hydrolysis in liver disease: a selective review JB Simon	The Yale journal of biology and medicine	1979
Fluorimetric assay of acid lipase in human leukocytes S Kelly, R Bakhru-Kishore	Clinica Chimica Acta	1979
Effect of alloxan diabetes on some aspects of lipid metabolism in albino rats SS Mukerjee, PS Murthi, NK Garg, SK Mukherjee	Acta Diabetologica Latina	1979
Pulmonary vascular obstruction associated with cholesteryl ester storage disease VV Michels, DJ Driscoll, GD Ferry, DF Duff, AL Beaudet	The Journal of Pediatrics	1979
Acid acylhydrolase deficiency in I-cell disease and pseudo-hurler polydystrophy RC Pittman, JC Williams, AL Miller, D Steinberg	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1979
Histochemical study on the pathogenesis of chlorocyclizine-induced pulmonary lipidosis E Gaton, M Wolman	Histochemistry	1979
Effect of alloxan diabetes on some aspects of lipid metabolism in albino rats. Mukerjee SS, Murthi PS, Garg NK, Mukherjee SK	Acta Diabetologica Latina	1979
Cholesterol ester hydrolase activity in human cerebrospinal fluid SN Shah, RC Johnson	Experimental Neurology	1978
Acid esterase activity in cultured skin fibroblasts and amniotic fluid cells using 4-methylumbelliferyl palmitate GJ Guy, J Butterworth	Clinica Chimica Acta	1978
Coronary intimal sclerosis in Morquio's syndrome SM Factor, L Biempica, S Goldfischer	Virchows Archiv A Pathological Anatomy and Histology	1978
Effects of 2,3,7,8-tetrachlorodibenzo-p-dioxin on lipid profiles in tissue of the Fischer rat PW Albro, JT Corbett, M Harris, LD Lawson	Chemico-Biological Interactions	1978
Cholesteryl ester and triglyceride hydrolysis by an acid lipase from rabbit aorta P Brecher, HY Pyun, AV Chobanian	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1978
Participation of Lysosomes in Atherosclerosis HL Bleich, ES Boro, H Wolinsky, S Fowler	New England Journal of Medicine	1978
Hepatic cholesterol ester hydrolase in human liver disease JB Simon, RW Poon	Gastroenterology	1978
Coronary intimal sclerosis in Morquio's syndrome. Factor SM, Biempica L, Goldfischer S	Virchows Archiv A Pathological Anatomy and Histology	1978
Characteristics and postnatal development of the acid lipase activity of the rat small intestine PM Coates, SA Brown, J Jumawan, O Koldovský	Biochemical Journal	1977
Strain differences in response to dietary cholesterol by JAX rabbits: Correlation with esterase patterns LF Zutphen, RR Fox	Atherosclerosis	1977
The role of smooth muscle cells and hematogenous macrophages in atheroma E Gaton, M Wolman	The Journal of Pathology	1977
Cholesterol ester storage disease: Clinical, biochemical, and pathological studies AL Beaudet, GD Ferry, BL Nichols, HS Rosenberg	The Journal of Pediatrics	1977
Two cholesterol ester hydrolases MC Riddle, F Wilfred, R Ross	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1977
The role of acid esterase in the pathogenesis of xanthoma: A Histochemical Study in Rabbits M Wolman, E Gaton, M Michowitz	Archives of Dermatological Research	1977
Partial deficiency of acid lipase with storage of triglycerides and cholesterol esters in liver. Genetic variant of wolman's disease? S Yoshiyuki, K Sakae, K Akio, O Yoshiro, E Haruhisa	Clinica Chimica Acta	1976
Inhibition of acid esterase in rat liver by 4,4′-diethylaminoethoxyhexestrol K Kasama, K Yoshida, S Takeda, R Tsujimura, S Hasegawa	Lipids	1976
Acid esterase in human arteries S Barbey, A Borit	Histochemistry	1976
Prenatal diagnosis of Wolman's disease AD Patrick, P Willcox, R Stephens, VG Kenyon	Journal of medical genetics	1976
Receptor-Mediated Control of Cholesterol Metabolism: Study of human mutants has disclosed how cells regulate a substance that is both vital and lethal MS Brown, JL Goldstein	Science	1976
Restoration of a regulatory response to low density lipoprotein in acid lipase-deficient human fibroblasts MS Brown, MK Sobhani, GY Brunschede, JL Goldstein	The Journal of biological chemistry	1976
Inhibition of acid esterase in rat liver by 4,4'-diethylamino-ethoxyhexestrol. Kasama K, Yoshida K, Takeda S, Tsujimura R, Hasegawa S	Lipids	1976
Receptor-dependent hydrolysis of cholesteryl esters contained in plasma low density lipoprotein MS Brown, SE Dana, JL Goldstein	Proceedings of the National Academy of Sciences	1975
Identity and Activities of Lysosomal Enzymes in Parenchymal and Non-Parenchymal Cells from Rat Liver TJ BERKEL, JK KRUIJT, JF KOSTER	European Journal of Biochemistry	1975
Cholesteryl ester hydrolytic activity of rat liver plasma membrane MC Riddle, EA Smuckler, JA Glomset	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1975
Arterial lysosomes and connective tissue in primate atherosclerosis and hypertension H Wolinsky, S Goldfischer, MM Daly, LE Kasak, B Coltoff-Schiller	Circulation research	1975
Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease JL Goldstein, SE Dana, , AL Beaudet, Brown	The Journal of biological chemistry	1975
Accumulation of oxygenated steryl esters in Wolman's disease G Assmann, DS Fredrickson, HR Sloan, HM Fales, RJ Highet	Journal of lipid research	1975
Acid esterase as a factor in atheromatosis M Wolman	Atherosclerosis	1974
Advances in Lipid Research AM Scanu	Advances in Lipid Research	1965

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