EC Number   |
Disease  |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    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 | Blindness |
18021406 |
Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response. |
causal interaction
unassigned |
4
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 | Breast Neoplasms |
15205341 |
Molecular causes of the aberrant choline phospholipid metabolism in breast cancer. |
causal interaction
diagnostic usage
ongoing research
unassigned |
3
3
2
0 |
| 3.1.2.22 | Intellectual Disability |
12855696 |
The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2. |
causal interaction
unassigned |
4
0 |
| 3.1.2.22 | Lysosomal Storage Diseases |
9648881 |
Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 3.1.2.22 | Lysosomal Storage Diseases |
23581634 |
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. |
causal interaction
unassigned |
3
0 |
| 3.1.2.22 | Lysosomal Storage Diseases |
24705017 |
Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. |
unassigned |
0 |
| 3.1.2.22 | Lysosomal Storage Diseases |
24997880 |
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. |
causal interaction
unassigned |
4
0 |
| 3.1.2.22 | Lysosomal Storage Diseases |
25233404 |
Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe? |
causal interaction
unassigned |
4
0 |
