SMPD1, sphingomyelin phosphodiesterase 1, 6609

N. diseases: 247; N. variants: 130
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 Biomarker disease BEFREE The studies identify the acid sphingomyelinase as a novel therapeutic target for treating MS patients. 31778303 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 Biomarker disease BEFREE To explore acid sphingomyelinase (ASM) activity and altered sphingolipid metabolism as potential biomarkers in serum of MS patients, to predict active and progressive disease, and response to disease modifying therapy (DMT). 30553168 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 Biomarker disease BEFREE These data are of diagnostic relevance and show, for the first time, high number of acid sphingomyelinase-enriched exosomes in MuS, opening a new window for therapeutic approaches/targets in the treatment of MuS. 29449691 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 Biomarker disease BEFREE Sphingolipids, in particular ceramide and the enzyme acid sphingomyelinase, which generates ceramide from sphingomyelin, seem to be involved in astrocyte activation and neuronal damage in multiple sclerosis. 28582448 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 Biomarker disease BEFREE We tested the role of the acid sphingomyelinase/ceramide system in a model of MS, i.e. experimental autoimmune encephalomyelitis (EAE). 29131010 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.060 Biomarker disease BEFREE In particular, acid sphingomyelinase (ASM), a critical enzyme in the production of the bioactive lipid ceramide, is involved in the pathogenesis of MS; however, its role in the brain vasculature remains unknown. 26597010 2016