EC Number   |
General Information |
Reference |
|---|
    3.1.2.22 | malfunction |
enzyme deficiency causes alterations in the mitochondrial respiratory chain. Enzyme-deficient neurons are more sensitive to mitochondrial complex I inhibition by 1-methyl-4-phenylpyridinium and have significantly decreased sensitivity to chemical anoxia induced by the mitochondrial complex IV inhibitor sodium azide |
751466 |
| 3.1.2.22 | malfunction |
first case of infantile neuronal ceroid lipofuscinosis in 37 month old Japanese boy diagnosed by enzyme activity deficiency of palmitoyl-protein thioesterase, displaying symptoms of severe deterioration beginning in his 14th month |
707922 |
| 3.1.2.22 | malfunction |
Garland cells from Ppt1 loss-of-function mutants have defects in endocytic trafficking |
710070 |
| 3.1.2.22 | malfunction |
neuronal ceroid lipofuscinoses-like signs caused by single nucleotide insertion in exon 8 (homozygous) |
716234 |
| 3.1.2.22 | malfunction |
PPT1 deficient cells are partially resistant to tumor necrosis factor-induced cell death (57-75% cell viability versus 15-30% for control fibroblasts), tumor necrosis factor-initiated proteolytic cleavage of caspase-8, Bid and caspase-3, as well as cytochrome c release is strongly attenuated. Activation of p42/p44 mitogen-activated protein kinase and of transcription factor NF-kappaB by tumor necrosis factor, and induction of cell death by staurosporine or chemotherapeutic drugs in infantile neuronal ceroid lipofuscinosis cells are unaffected by PPT1 deficiency |
707557 |
| 3.1.2.22 | malfunction |
PPT1-deficient mouse (PPT1-/-) mimics the clinical symptoms and underlying pathology of infantile neuronal ceroid lipofuscinosis: Purkinje cell loss beginning at 3 months, which correlates with changes in rotarod performance, an early stage reactive gliosis and a primary pathology in astrocytes, including changes in S100beta and GLAST expression, a late stage granule cell loss, microglial activation, and demyelination. Neuronalglial interactions are the core pathology in the PPT1-/- cerebellum |
708433 |
| 3.1.2.22 | malfunction |
resistance to tumor necrosis factor-induced apoptosis in embryonic fibroblasts derived from Ppt1/Cln1-deficient mice but not from mice with a targeted deletion of Cln3 or Cln5 (murine models of ceroid lipofuscinosis) |
707557 |
| 3.1.2.22 | physiological function |
essential for proper neuronal cell fates and organization, ortholog to the human Batten disease palmitoyl protein thioesterase 1 |
716683 |
| 3.1.2.22 | 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 |
730399 |
| 3.1.2.22 | physiological function |
mutations in palmitoyl-protein thioesterase Ppt1 genetically interact with temperature sensitive mutations in the Drosophila dynamin gene shibire, accelerating the paralytic behavior of shibire mutants at 27°C. Ppt1-deficient larvae show an increase in miniature excitatory junctional potentials and a significant depression of evoked excitatory junctional potentials in response to repetitive stimulation. In Ppt1-mutant larvae, there is a significant decrease in fluorescent endocytic tracer FM1-43 uptake at the mutant neuromuscular junction. Ppt1-deficient and Ppt1 point mutant larvae display defects in locomotion that are consistent with alterations in synaptic function |
729768 |
