نتایج جستجو برای: sphingomyelinase

تعداد نتایج: 1839  

Journal: :Clinical chemistry 2015
Farideh Ghomashchi Mariana Barcenas Frantisek Turecek C Ronald Scott Michael H Gelb

Niemann-Pick-A/B disease is a lysosomal storage disease caused by deficiency of acid sphingomyelinase (1 ). Efforts are underway to develop novel therapies for this disease, and some newborn screening centers have started to test for acid sphingomyelinase enzymatic activity in dried blood spots on newborn screening cards. Available assays for newborn screening include tandem mass spectrometry (...

2016
Simon R Lea Hannah J Metcalfe Jonathan Plumb Christian Beerli Chris Poll Dave Singh Katharine H Abbott-Banner

BACKGROUND Increased pulmonary ceramide levels are suggested to play a causative role in lung diseases including COPD. Neutral sphingomyelinase-2 (nSMase-2) and acid SMase (aSMase), which hydrolyze sphingomyelin to produce ceramide, are activated by a range of cellular stresses, including inflammatory cytokines and pathogens, but notably cigarette smoke appears to only activate nSMase-2. Our pr...

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