SMPD1

(redirected from ASMASE)

SMPD1

A gene on chromosome 11p15.4-p15.1 that encodes a lysosomal acid sphingomyelinase, which converts sphingomyelin to ceramide and has phospholipase C activity.

Molecular pathology
SMPD1 mutations are linked to Niemann-Pick disease types A and B.
References in periodicals archive ?
In addition to the production of exosomes via an ESCRT-dependent pathway, sphingolipid ceramide also mediates the production of exosomes and a hydrochloride hydrate (GW4869) can induce the inactivation of the acid sphingomyelinase (aSMase).
Avota and coworkers demonstrated that binding ofmeasles virus to pattern recognition receptor on DCs leads to an activation of aSMase and enhanced virus uptake into DCs [107].
Several isoforms of SMase that can be distinguished by their optima pH, neutral SMase (NSMase), and acid SMase (ASMase) are mostly found in mitochondria and lysosomes, respectively [2].
Rituximab partially prevented SMPDL-3b and ASMase downregulation that was observed in podocytes treated with the sera of patients with recurrent FSGS.
NK, natural killer; uPAR, urokinase-type plasminogen activator receptor; suPAR, soluble urokinase-type plasminogen activator receptor; GPI, glycosylphosphatidylinositol; TNF, tumor necrosis factor; NFAT, nuclear factor of activated T cells; MMF, mycophenolate mofetil; GTP, guanosine-5'- triphosphate; SMPDL, sphingomyelin phosphodiesterase acid-like; ASMase, acid sphingomyelinase.
Fucho et al., "ASMase is required for chronic alcohol induced hepatic endoplasmic reticulum stress and mitochondrial cholesterol loading," Journal of Hepatology, vol.
TABLE 2: Effect of myriocin treatment (for 7 days) and high fat diet feeding (for 5 weeks) on the neutral (nSMase) and acidic (aSMase) sphingomyelinases activities in rat skeletal muscle [n (per group) = 8].
Enzymes involved in nervous cell differentiation (nSMase) [16] and lysosomal enzymes involved in nervous cell damage such as acid sphingomyelinase (aSMase), [beta]-hexosaminidase, [alpha]-fucosidase, [beta]-mannosidase, a-mannosidase, [beta]-galactosidase, and [beta]-glucocerebrosidase [19, 20] were assayed.
Importantly, loss of epithelial stem cells did not occur when endothelial apoptosis was blocked by basic fibroblast growth factor (bFGF) treatment or by genetic deletion of the acid sphingomyelinase (ASMase)--a gene that is required for radiation-induced endothelial apoptosis.
Endocytic vesicular pathways are involved in plasma membrane complex sphingolipid internalization to the lysosomes where hydrolysis is catalyzed by acid sphingomyelinase (aSMase), acid ceramidase (aCDase), and glycosidase.