Publications by authors named "Sabrina Karri"
Article Synopsis
- Nonsense mutations cause 12% of cystic fibrosis (CF) cases, leading to problems with a gene that helps make a protein.
- A new drug called TLN468 can help fix this issue better than an older drug, gentamicin, by allowing the production of a full-length protein.
- The study found that TLN468 helped add a specific amino acid in the protein, making it work better with additional treatments, suggesting it could be helpful for CF patients in the future.
Premature termination codons (PTCs) account for 10 to 20% of genetic diseases in humans. The gene inactivation resulting from PTCs can be counteracted by the use of drugs stimulating PTC readthrough, thereby restoring production of the full-length protein. However, a greater chemical variety of readthrough inducers is required to broaden the medical applications of this therapeutic strategy.
View Article and Find Full Text PDFPremature termination codons (PTCs) are generally associated with severe forms of genetic diseases. Readthrough of in-frame PTCs using small molecules is a promising therapeutic approach. Nonetheless, the outcome of preclinical studies has been low and variable.
View Article and Find Full Text PDF