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Literature summary for 3.1.4.12 extracted from

  • Dodge, J.C.; Clarke, J.; Treleaven, C.M.; Taksir, T.V.; Griffiths, D.A.; Yang, W.; Fidler, J.A.; Passini, M.A.; Karey, K.P.; Schuchman, E.H.; Cheng, S.H.; Shihabuddin, L.S.
    Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease (2009), Exp. Neurol., 215, 349-357.
    View publication on PubMed

Application

Application Comment Organism
medicine Niemann-Pick A disease is a lysosomal storage disorder caused by a deficiency in acid sphingomyelinase activity, repeated intracerebroventricular infusions of recombinant human acid sphingomyelinase reduce the aberrant lysosomal accumulation of cholesterol and are effective at improving the disease phenotype in the acid sphingomyelinase-knockout mouse as indicated by a partial alleviation of the motor abnormalities Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
sphingomyelin + H2O
-
Homo sapiens N-acylsphingosine + choline phosphate
-
?

Synonyms

Synonyms Comment Organism
acid sphingomyelinase
-
Homo sapiens
ASM
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Homo sapiens