EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
7637805 |
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. |
unassigned |
0 |
3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
8663305 |
Lysosomal targeting of palmitoyl-protein thioesterase. |
causal interaction unassigned |
4 0 |
3.1.2.22 | Neurodegenerative Diseases |
8702598 |
Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis. |
causal interaction unassigned |
4 0 |
3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
8702598 |
Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis. |
causal interaction unassigned |
4 0 |
3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
8786130 |
cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis. |
ongoing research unassigned |
2 0 |
3.1.2.22 | Blindness |
8816748 |
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. |
causal interaction ongoing research unassigned |
2 2 0 |
3.1.2.22 | Brain Death |
8816748 |
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. |
causal interaction ongoing research unassigned |
2 2 0 |
3.1.2.22 | Neurodegenerative Diseases |
8816748 |
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. |
causal interaction ongoing research unassigned |
2 2 0 |
3.1.2.22 | Neuronal Ceroid-Lipofuscinoses |
8816748 |
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. |
causal interaction ongoing research unassigned |
2 2 0 |
3.1.2.22 | Seizures |
8816748 |
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. |
causal interaction ongoing research unassigned |
2 2 0 |