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Literature summary for 3.1.2.22 extracted from

  • Hu, J.; Lu, J.Y.; Wong, A.M.; Hynan, L.S.; Birnbaum, S.G.; Yilmaz, D.S.; Streit, B.M.; Lenartowicz, E.M.; Thompson, T.C.; Cooper, J.D.; Hofmann, S.L.
    Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis (2012), Mol. Genet. Metab., 107, 213-221.
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine homozygous palmitoyl-protein thioesterase PPT1 knockout mice reproduce the known features of infantile neuronal ceroid lipofuscinosis, developing signs of motor dysfunction at 5 months of age and death by around 8 months. PPT1 knockout mice treated with purified recombinant PPT1 corresponding to 12 mg/kg or 180 U/kg for a 25 g mouse administered intravenously weekly either from birth or beginning at 8 weeks of age surprisingly well tolerate the treatment and neither anaphylaxis nor antibody formation is observed. In mice treated from birth, survival increases from 236 to 271 days and the onset of motor deterioration is similarly delayed. In mice treated beginning at 8 weeks, no increases in survival or motor performance are seen. Outside the central nervous system, substantial clearance of autofluorescent storage material in many tissues is observed. Macrophages in spleen, liver and intestine are especially markedly improved, as are acinar cells of the pancreas and tubular cells of the kidney Mus musculus

Localization

Localization Comment Organism GeneOntology No. Textmining

Organism

Organism UniProt Comment Textmining
Mus musculus
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 mouse model of infantile neuronal ceroid lipofuscinosis
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Source Tissue

Source Tissue Comment Organism Textmining

General Information

General Information Comment Organism
physiological function homozygous palmitoyl-protein thioesterase PPT1 knockout mice reproduce the known features of infantile neuronal ceroid lipofuscinosis, developing signs of motor dysfunction at 5 months of age and death by around 8 months. PPT1 knockout mice treated with purified recombinant PPT1 corresponding to 12 mg/kg or 180 U/kg for a 25 g mouse administered intravenously weekly either from birth or beginning at 8 weeks of age surprisingly well tolerate the treatment and neither anaphylaxis nor antibody formation is observed. In mice treated from birth, survival increases from 236 to 271 days and the onset of motor deterioration is similarly delayed. In mice treated beginning at 8 weeks, no increases in survival or motor performance are seen. Outside the central nervous system, substantial clearance of autofluorescent storage material in many tissues is observed. Macrophages in spleen, liver and intestine are especially markedly improved, as are acinar cells of the pancreas and tubular cells of the kidney Mus musculus