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 ...

BACKGROUND Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce. METHODS A cohort of 27 Chinese patients diagnosed with acid sphingomyelinase deficiency, within the past five years, were collected and investigated for genotype, phenotype, and their correlations. RESULTS The majority of ...

Acid sphingomyelinase (ASM), a key enzyme in sphingolipid metabolism, hydrolyzes sphingomyelin to ceramide and phosphorylcholine. In mammals, the expression of a single gene, SMPD1, results in two forms of the enzyme that differ in several characteristics. Lysosomal ASM (L-ASM) is located within the lysosome, requires no additional Zn2+ ions for activation and is glycosylated mainly with high-m...

State Machine (ASM), 101 concurrencyin ASM, 103 event-drivenASM, 110 ground modelin ASM, 101 non-determinismin ASM, 105 parallelismin ASM, 106 sequentialisationin ASM, 115 validationof ASMs, 110verificationof ASMs, 110