EC Number   |
General Information |
Reference  |
|---|
    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 |
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 |
role of PPT1 and, likely, protein depalmitoylation in the regulation of tumor necrosis factor-induced apoptosis |
707557 |
| 3.1.2.22 | physiological function |
role of PPT1 and, likely, protein depalmitoylation in the regulation of tumor necrosis factor-induced apoptosis. PPT1 is involved in cell death triggered by death receptors but not receptor-independent cytotoxic agents. Expression of PPT1 cDNA in infantile neuronal ceroid lipofuscinosis cells restores the tumor necrosis factor sensitivity |
707557 |
| 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 |
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 | physiological function |
when injected intravenously into PPT1-deficient mice, the clearance of recombinant PPT1 from plasma is rapid, with a half-life of 10 min. Most of the injected dose is distributed to the kidney and liver and potentially corrective levels are also observed in heart, lung and spleen. Brain uptake is minimal. The enzyme is largely mannose 6-phosphorylated and takes up rapidly by PPT1-deficient immortalized lymphoblasts derived from infantile neuronal ceroid lipofuscinosis patients |
709975 |
| 3.1.2.22 | malfunction |
Garland cells from Ppt1 loss-of-function mutants have defects in endocytic trafficking |
710070 |
| 3.1.2.22 | physiological function |
Ppt1 plays a role in modulating the early stages of vesicle formation. There may be a connection between Ppt1 and bone morphogenetic protein signaling at the cellular level. Expression of wild-type Ppt1 in the adult visual system using GMR-Gal4 alters the external and internal organization of the adult retina. When co-expressed UAS-dynamin with Ppt1 there is a significant enhancement of the rough eye phenotype |
710070 |
| 3.1.2.22 | malfunction |
neuronal ceroid lipofuscinoses-like signs caused by single nucleotide insertion in exon 8 (homozygous) |
716234 |
