The Experts below are selected from a list of 894 Experts worldwide ranked by ideXlab platform
Gunther Daum - One of the best experts on this subject based on the ideXlab platform.
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steryl ester synthesis storage and hydrolysis a contribution to sterol homeostasis
Biochimica et Biophysica Acta, 2017Co-Authors: Martina Korber, Isabella Klein, Gunther DaumAbstract:Abstract Sterols are essential lipids of all eukaryotic cells, appearing either as free sterols or steryl esters. Besides other regulatory mechanisms, esterification of sterols and hydrolysis of steryl esters serve to buffer both an excess and a lack of free sterols. In this review, the esterification process, the storage of steryl esters and their mobilization will be described. Several model organisms are discussed but the focus was set on mammals and the yeast Saccharomyces cerevisiae. The contribution of imbalanced cholesterol homeostasis to several human Diseases, namely Wolman Disease, cholesteryl ester storage Disease, atherosclerosis and Alzheimer's Disease, Niemann-Pick type C and Tangier Disease is described.
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steryl ester synthesis storage and hydrolysis a contribution to sterol homeostasis molecular and cell biology of lipids
Biochimica et Biophysica Acta, 2017Co-Authors: Martina Korber, Isabella Klein, Gunther DaumAbstract:Sterols are essential lipids of all eukaryotic cells, appearing either as free sterols or steryl esters. Besides other regulatory mechanisms, esterification of sterols and hydrolysis of steryl esters serve to buffer both an excess and a lack of free sterols. In this review, the esterification process, the storage of steryl esters and their mobilization will be described. Several model organisms are discussed but the focus was set on mammals and the yeast Saccharomyces cerevisiae. The contribution of imbalanced cholesterol homeostasis to several human Diseases, namely Wolman Disease, cholesteryl ester storage Disease, atherosclerosis and Alzheimer's Disease, Niemann-Pick type C and Tangier Disease is described.
Maja Di Rocco - One of the best experts on this subject based on the ideXlab platform.
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long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
Orphanet Journal of Rare Diseases, 2018Co-Authors: Maja Di Rocco, Angela Madeo, Marta Bertamino, Livia Pisciotta, Samuel BertoliniAbstract: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. Furthermore, ezetimibe acts by blocking inflammasome activation which is the cause of liver fibrosis in steatohepatitis and in lysosomal storage Diseases. Two patients with Cholesterol Ester Storage Disease were treated with ezetimibe for 9 years and a third patients for 10 years. Treatment was supplemented with low dose of atorvastatin in the first two patients during the last 6 years. All patients showed a significant reduction of alanine aminotransferase, cholesterol and triglyceride. Furthermore, no progression of liver fibrosis was demonstrated. In this observational case series, ezetimibe is effective, safe, and sustainable treatment for lysosomal acid lipase deficiency. Further studies are warranted to demonstrate that ezetimibe is an alternative therapy to enzyme replacement therapy.
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Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
Orphanet Journal of Rare Diseases, 2018Co-Authors: Maja Di Rocco, Angela Madeo, Marta Bertamino, Livia Pisciotta, Stefano BertoliniAbstract: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. Furthermore, ezetimibe acts by blocking inflammasome activation which is the cause of liver fibrosis in steatohepatitis and in lysosomal storage Diseases. Results Two patients with Cholesterol Ester Storage Disease were treated with ezetimibe for 9 years and a third patients for 10 years. Treatment was supplemented with low dose of atorvastatin in the first two patients during the last 6 years. All patients showed a significant reduction of alanine aminotransferase, cholesterol and triglyceride. Furthermore, no progression of liver fibrosis was demonstrated. Conclusion In this observational case series, ezetimibe is effective, safe, and sustainable treatment for lysosomal acid lipase deficiency. Further studies are warranted to demonstrate that ezetimibe is an alternative therapy to enzyme replacement therapy.
Martina Korber - One of the best experts on this subject based on the ideXlab platform.
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steryl ester synthesis storage and hydrolysis a contribution to sterol homeostasis
Biochimica et Biophysica Acta, 2017Co-Authors: Martina Korber, Isabella Klein, Gunther DaumAbstract:Abstract Sterols are essential lipids of all eukaryotic cells, appearing either as free sterols or steryl esters. Besides other regulatory mechanisms, esterification of sterols and hydrolysis of steryl esters serve to buffer both an excess and a lack of free sterols. In this review, the esterification process, the storage of steryl esters and their mobilization will be described. Several model organisms are discussed but the focus was set on mammals and the yeast Saccharomyces cerevisiae. The contribution of imbalanced cholesterol homeostasis to several human Diseases, namely Wolman Disease, cholesteryl ester storage Disease, atherosclerosis and Alzheimer's Disease, Niemann-Pick type C and Tangier Disease is described.
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steryl ester synthesis storage and hydrolysis a contribution to sterol homeostasis molecular and cell biology of lipids
Biochimica et Biophysica Acta, 2017Co-Authors: Martina Korber, Isabella Klein, Gunther DaumAbstract:Sterols are essential lipids of all eukaryotic cells, appearing either as free sterols or steryl esters. Besides other regulatory mechanisms, esterification of sterols and hydrolysis of steryl esters serve to buffer both an excess and a lack of free sterols. In this review, the esterification process, the storage of steryl esters and their mobilization will be described. Several model organisms are discussed but the focus was set on mammals and the yeast Saccharomyces cerevisiae. The contribution of imbalanced cholesterol homeostasis to several human Diseases, namely Wolman Disease, cholesteryl ester storage Disease, atherosclerosis and Alzheimer's Disease, Niemann-Pick type C and Tangier Disease is described.
Samuel Bertolini - One of the best experts on this subject based on the ideXlab platform.
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long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
Orphanet Journal of Rare Diseases, 2018Co-Authors: Maja Di Rocco, Angela Madeo, Marta Bertamino, Livia Pisciotta, Samuel BertoliniAbstract: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. Furthermore, ezetimibe acts by blocking inflammasome activation which is the cause of liver fibrosis in steatohepatitis and in lysosomal storage Diseases. Two patients with Cholesterol Ester Storage Disease were treated with ezetimibe for 9 years and a third patients for 10 years. Treatment was supplemented with low dose of atorvastatin in the first two patients during the last 6 years. All patients showed a significant reduction of alanine aminotransferase, cholesterol and triglyceride. Furthermore, no progression of liver fibrosis was demonstrated. In this observational case series, ezetimibe is effective, safe, and sustainable treatment for lysosomal acid lipase deficiency. Further studies are warranted to demonstrate that ezetimibe is an alternative therapy to enzyme replacement therapy.
Stefano Bertolini - One of the best experts on this subject based on the ideXlab platform.
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Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
Orphanet Journal of Rare Diseases, 2018Co-Authors: Maja Di Rocco, Angela Madeo, Marta Bertamino, Livia Pisciotta, Stefano BertoliniAbstract: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. Furthermore, ezetimibe acts by blocking inflammasome activation which is the cause of liver fibrosis in steatohepatitis and in lysosomal storage Diseases. Results Two patients with Cholesterol Ester Storage Disease were treated with ezetimibe for 9 years and a third patients for 10 years. Treatment was supplemented with low dose of atorvastatin in the first two patients during the last 6 years. All patients showed a significant reduction of alanine aminotransferase, cholesterol and triglyceride. Furthermore, no progression of liver fibrosis was demonstrated. Conclusion In this observational case series, ezetimibe is effective, safe, and sustainable treatment for lysosomal acid lipase deficiency. Further studies are warranted to demonstrate that ezetimibe is an alternative therapy to enzyme replacement therapy.
