Path ID: DB05016_MESH_D020388_1
Concepts
| Identifier | Name | Type |
|---|---|---|
| MESH:C515878 | ataluren | Drug |
| UniProt:P11532 | Dystrophin | Protein |
| MESH:D018389 | Codon, Nonsense | ChemicalSubstance |
| MESH:D059365 | Nonsense Mediated mRNA Decay | BiologicalProcess |
| HP:0003323 | Progressive muscle weakness | PhenotypicFeature |
| MESH:D020388 | Muscular Dystrophy, Duchenne | Disease |
Relationships
NOTE: predicates are annotated in Biolink Model (v1.3.0)
| Subject | Predicate | Object |
|---|---|---|
| Ataluren | POSITIVELY CORRELATED WITH | Dystrophin |
| Dystrophin | DISRUPTED BY | Codon, Nonsense |
| Codon, Nonsense | PREDISPOSES | Nonsense Mediated Mrna Decay |
| Nonsense Mediated Mrna Decay | POSITIVELY CORRELATED WITH | Progressive Muscle Weakness |
| Progressive Muscle Weakness | MANIFESTATION OF | Muscular Dystrophy, Duchenne |
Comment: The drug enables ribosomes to bypass premature stop codons caused by nonsense mutations in the dystrophin gene. This restores the full-length and functional capability of dystrophin. Without the drug, the premature stop codon means that a truncated protein will be produced, which will be unabled to play its role in muscle strenght and proper function leading to the disease. The disease is denoted Duchenne muscular dystrophy in the original file as per DrugCentral.
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