Pub. Date : 2019
PMID : 31800572
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Current therapy decreases cystine accumulation, thus slowing organ deterioration without reversing renal Fanconi syndrome or preventing eventual need for a kidney transplant.15-20% of cystinosis patients harbour at least one nonsense mutation in CTNS, leading to premature end of translation of the transcript. | Cystine | cystinosin, lysosomal cystine transporter | Homo sapiens |
| 2 | CONCLUSIONS: ELX-02 has translational read-through activity and produces a functional CTNS protein, as evidenced by reduced cystine accumulation. | Cystine | cystinosin, lysosomal cystine transporter | Homo sapiens |