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Sphingomyelin phosphodiesterase 1, acid lysosomal

acid sphingomyelinase, NPD, ASMase
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, V1a, PrP
Papers on acid sphingomyelinase
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Review
New
Dardis et al., Udine, Italy. In Hum Mutat, Feb 2016
Niemann-Pick Types A and B (NPA/B) diseases are autosomal recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase (ASM) because of the mutations in the SMPD1 gene.
A sphingolipid mechanism for behavioral extinction.
New
Müller et al., Düsseldorf, Germany. In J Neurochem, Feb 2016
Rapid extinction, indicating efficient re-learning, coincided with a decrease in the activity of the enzyme acid sphingomyelinase (ASM), which catalyzes turnover of sphingomyelin to ceramide, in the dorsal hippocampus (DH) of rats.
The structure and catalytic mechanism of Human Sphingomyelin Phosphodiesterase like 3a - an acid sphingomyelinase homolog with a novel nucleotide hydrolase activity.
New
Nordlund et al., Singapore, Singapore. In Febs J, Feb 2016
UNASSIGNED: Human sphingomyelinase phosphodiesterase like 3a (SMPDL3a) is a secreted enzyme that shares a conserved catalytic domain with human acid sphingomyelinase (aSMase), the enzyme carrying mutations causative of Niemann Pick disease.
Screening and Characterization of Genes Involved in the Processing of Lipid-Containing Droplets in C. elegans Embryos.
New
Döring et al., Kiel, Germany. In Genetics, Feb 2016
The genes include cpl-1 (cathepsin L-like cysteine protease), ccz-1 (guanine nucleotide exchange factor subunit), and asm-3 (acid sphingomyelinase), which is closely related to the human Niemann-Pick disease-causing gene, SMPD1.
Host Sphingomyelin Increases West Nile Virus Infection in vivo.
New
Saiz et al., Spain. In J Lipid Res, Feb 2016
After infection with the neurotropic WNV, mice deficient in acid sphingomyelinase (ASM), which accumulate high levels of sphingomyelin in their tissues, displayed exacerbated infection.
Sphingolipids in Major Depression.
Review
New
Gulbins et al., Essen, Germany. In Neurosignals, Jan 2016
We have recently discovered that an inhibition of the acid sphingomyelinase/ceramide system mediates the effects of tri- and tetracyclic antidepressants.
Role of sphingomyelinases in neurological disorders.
Review
New
Farooqui et al., Singapore, Singapore. In Expert Opin Ther Targets, Dec 2015
AREAS COVERED: We covered an introduction to sphingomyelinases and its enzymatic product ceramide, in membrane domains or lipid rafts and the nucleus; followed by crosstalk between sphingomyelinase and cytosolic phospholipase A2 (cPLA2) catalysed products including arachidonic acid, functions of acid sphingomyelinase (aSMase) and neutral sphingomyelinase (N-SMase) in neurons, neuronal progenitor cells, glial cells, and brain endothelial cells; alterations in acid and N-SMases in Niemann Pick Disease Type A, major depression, Alzheimer's disease, cerebral ischemia, and pain; and recent developments in identification of inhibitors to sphingomyelinases.
Beyond ecto-nucleotidase: CD39 defines human Th17 cells with CD161.
Review
New
Robson et al., Nanchang, China. In Purinergic Signal, Sep 2015
CD39 and CD161 have direct interactions that are further linked with acid sphingomyelinase (ASM).
Types A and B Niemann-Pick disease.
Review
New
Wasserstein et al., New York City, United States. In Best Pract Res Clin Endocrinol Metab, Mar 2015
The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM).
Effects of Low-Protein Diets Supplemented with Ketoacid on Expression of TGF-β and Its Receptors in Diabetic Rats.
Mei et al., Hangzhou, China. In Biomed Res Int, 2014
They were then equally randomized to three groups: NPD group, LPD group, and LPD + KA group.
Transformation-associated changes in sphingolipid metabolism sensitize cells to lysosomal cell death induced by inhibitors of acid sphingomyelinase.
Impact
Jäättelä et al., Copenhagen, Denmark. In Cancer Cell, 2013
Here, we identify acid sphingomyelinase (ASM) inhibition as a selective means to destabilize cancer cell lysosomes.
It takes a CAD to kill a tumor cell with a LMP.
Impact
Kolesnick et al., Essen, Germany. In Cancer Cell, 2013
In this issue of Cancer Cell, Petersen and colleagues show that lysosomal sphingomyelin content determines LMP and cationic drugs displace acid sphingomyelinase from lysosomal membranes, increasing tumor LMP and death.
Acid sphingomyelinase-ceramide system mediates effects of antidepressant drugs.
Impact
Kornhuber et al., Essen, Germany. In Nat Med, 2013
We investigated the role of the acid sphingomyelinase (Asm)-ceramide system as a target for antidepressants.
TNF dually mediates resistance and susceptibility to mycobacteria via mitochondrial reactive oxygen species.
Impact
Ramakrishnan et al., Seattle, United States. In Cell, 2013
TNF-induced necroptosis occurs through two pathways: modulation of mitochondrial cyclophilin D, implicated in mitochondrial permeability transition pore formation, and acid sphingomyelinase-mediated ceramide production.
Ebolavirus requires acid sphingomyelinase activity and plasma membrane sphingomyelin for infection.
GeneRIF
Davey et al., Galveston, United States. In J Virol, 2012
work suggests that ASMase activity and sphingomyelin presence are necessary for efficient infection of cells by ebolavirus.
A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.
GeneRIF
Wang et al., Shanghai, China. In Chin Med J (engl), 2012
One mutation V36A due to c.107T>C in exon 1 is a single nucleotide polymorphism and the other N522S due to c.1565 A>G in exon 6 is a novel missense mutation
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
Impact
Kasper et al., Vienna, Austria. In Lancet, 2012
Anonymised samples were analysed for enzyme activities of acid β-glucocerebrosidase, α-galactosidase, α-glucosidase, and acid sphingomyelinase by electrospray ionisation tandem mass spectrometry.
Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease.
GeneRIF
Marí et al., Barcelona, Spain. In J Biol Chem, 2012
a functional relationship between ASMase and CtsB and that the ablation of ASMase leads to the enhanced processing and activation of CtsB.
Adeno-associated virus-mediated expression of acid sphingomyelinase decreases atherosclerotic lesion formation in apolipoprotein E(-/-) mice.
GeneRIF
Yew et al., Framingham, United States. In J Gene Med, 2011
Adeno-associated virus-mediated expression of acid sphingomyelinase decreases atherosclerotic lesion formation in apolipoprotein E knockout mice.
Regulation of CC ligand 5/RANTES by acid sphingomyelinase and acid ceramidase.
GeneRIF
Hannun et al., Charleston, United States. In J Biol Chem, 2011
cells deficient in acid ceramidase (aCDase) also exhibited defects in CCL5 induction, whereas cells deficient in sphingosine kinase-1 and -2 exhibited higher levels of CCL5.
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