An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A <i>SMPD1</i> p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase
نویسندگان
چکیده
منابع مشابه
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry.
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 (...
متن کاملSmall molecule inhibitors of acid sphingomyelinase.
Despite of the importance of the acid sphingomyelinase for sphingomyelin homeostasis and sphingolipid signalling, potent and selective inhibitors for this enzyme are rare. An increasing set of data on the inhibition of acid sphingomyelinase in different disease models using indirect inhibitors has been generated and strongly implies acid sphingomyelinase as an emerging drug target. Very recentl...
متن کاملEffect of saposins on acid sphingomyelinase.
The effect of saposins (A, B, C and D) on acid sphingomyelinase activity was determined using a crude human kidney sphingomyelinase preparation and a purified sphingomyelinase preparation from human placenta. Saposin D stimulated the activity of the crude enzyme by increasing its apparent Km and Vmax. values for sphingomyelin hydrolysis. Unlike the crude enzyme, the activity of the purified enz...
متن کاملCrystal structure of mammalian acid sphingomyelinase
Acid sphingomyelinase (ASMase, ASM, SMPD1) converts sphingomyelin into ceramide, modulating membrane properties and signal transduction. Inactivating mutations in ASMase cause Niemann-Pick disease, and its inhibition is also beneficial in models of depression and cancer. To gain a better understanding of this critical therapeutic target, we determined crystal structures of mammalian ASMase in v...
متن کاملAn MspI polymorphism in the human acid sphingomyelinase gene (SMPD1).
Protocol: To detect the 506 polymorphism, a 567 bp SMPD1 genomic fragment is amplified using sense (5'-AGTAGTCGACATGGGCAGGATGTGTGG-3') and antisense (5'-AGTAGTGTCGACTTGCCTGGTTGAACC AC AGC-3') primers. Dot-blot hybridization is performed using allele-specific oligonucleotides for 506-Arg (5'-ACTACTCCAGGAGCTCT-3') and for 506-Gly (5'-ACTACTCCGGGAGCTCT-3'), which are hybridized at 42°C and washed ...
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ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 2020
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.250.5