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Literature summary for 3.1.4.12 extracted from

  • Pittis, M.G.; Ricci, V.; Guerci, V.I.; Marcais, C.; Ciana, G.; Dardis, A.; Gerin, F.; Stroppiano, M.; Vanier, M.T.; Filocamo, M.; Bembi, B.
    Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann pick type B patients and characterization of in vivo functional in-frame start codon (2004), Hum. Mutat., 24, 186-187.
    View publication on PubMed

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens Niemann Pick disease is an autosomal recessive disorder due to the deficit of lysosomal acid sphingomyelinase, which results in intracellular accumulation of sphingomyelin. Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information Niemann Pick disease is an autosomal recessive disorder due to the deficit of lysosomal acid sphingomyelinase, which results in intracellular accumulation of sphingomyelin. Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon Homo sapiens ?
-
?