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Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective [PDF]
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by deficient activity of acid sphingomyelinase (ASM) enzyme, leading to the accumulation of varying degrees of sphingomyelin. Lipid storage leads to foam cell infiltration in tissues, and clinical features including hepatosplenomegaly, pulmonary insufficiency and in some ...
Andrea Dardis +2 more
exaly +5 more sources
The acid sphingomyelinase/ceramide system plays an important role in bacterial and viral infections. Here, we report that either pharmacological inhibition of acid sphingomyelinase with amitriptyline, imipramine, fluoxetine, sertraline, escitalopram, or ...
Philipp Alexander Lang +2 more
exaly +2 more sources
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Acid sphingomyelinase in macrophage apoptosis
Current Opinion in Lipidology, 2004This article presents an overview of the recent progress in understanding metabolic and functional interrelationships of biologically active sphingolipids related to the sphingomyelin signal transduction pathway in relation to the regulation of apoptosis in macrophages.Ceramide generation is an essential, early step in apoptosis in numerous systems ...
Urs P, Steinbrecher +2 more
openaire +2 more sources
2013
The enzyme acid sphingomyelinase catalyzes the hydrolysis of sphingomyelin to ceramide. The importance of the enzyme for cell functions was first recognized in Niemann-Pick disease type A and B, the genetic disorders with a massive accumulation of sphingomyelin in many organs. Studies in the last years demonstrated that the enzyme also has an important
Henry, Brian +4 more
openaire +3 more sources
The enzyme acid sphingomyelinase catalyzes the hydrolysis of sphingomyelin to ceramide. The importance of the enzyme for cell functions was first recognized in Niemann-Pick disease type A and B, the genetic disorders with a massive accumulation of sphingomyelin in many organs. Studies in the last years demonstrated that the enzyme also has an important
Henry, Brian +4 more
openaire +3 more sources
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis [PDF]
Background: Gaucher disease is a lysosomal storage disorder caused by functional glucocerebrosidase enzyme deficiency. Hepatosplenomegaly and hematological complications are found in both Gaucher disease and Acid Sphingomyelinase Deficiency, which is ...
Annamaria Sapuppo +2 more
exaly +2 more sources
The emerging role of Acid Sphingomyelinase in autophagy
Apoptosis, 2015Autophagy, the main intracellular process of cytoplasmic material degradation, is involved in cell survival and death. Autophagy is regulated at various levels and novel modulators of its function are being continuously identified. An intriguing recent observation is that among these modulators is the sphingolipid metabolising enzyme, Acid ...
C. Perrotta +6 more
openaire +3 more sources
Functional Inhibitors of Acid Sphingomyelinase (FIASMAs)
2013Sphingolipids are not only structural components of biological membranes, but also play an important role in cellular signalling and, thus, are involved in cell proliferation and differentiation but also stress and cell death. It is therefore of great clinical relevance to define inhibitors of the enzymes involved in sphingolipid metabolism.
Kornhuber, Johannes +3 more
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Ursolic Acid Inhibits Acid Sphingomyelinase in Intestinal Cells
Phytotherapy Research, 2012Ursolic acid (UA) has antiinflammatory and anticancer effects on mammalian cells. Increase in acid sphingomyelinase (SMase) is associated with several inflammatory diseases including inflammatory bowel diseases. The enzyme has become a target for drug discovery. The present study examined the roles of UA on acid SMase in intestinal cells. We found that
Ping, Zhang +2 more
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Use of Acid Sphingomyelinase for Cancer Therapy
2013Acid sphingomyelinase (ASM) is a lipid hydrolase that cleaves the sphingolipid, sphingomyelin, into ceramide. Mutations in the ASM gene (SMPD1) result in the rare lysosomal storage disorder, Niemann-Pick disease (NPD). In addition to its role in NPD, over the past two decades, the importance of sphingolipids, and ASM in particular, in normal physiology
Radoslav, Savić, Edward H, Schuchman
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Acid sphingomyelinase: No potential as a biomarker for multiple sclerosis
Multiple Sclerosis and Related Disorders, 2019Multiple sclerosis (MS) lacks reliable biomarkers that reflect disease activity. Recent evidence suggests that an altered sphingolipid metabolism is associated with MS pathogenesis.To explore acid sphingomyelinase (ASM) activity and altered sphingolipid metabolism as potential biomarkers in serum of MS patients, to predict active and progressive ...
C.E. Leurs +10 more
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