Personalized readthrough therapies for junctional epidermolysis bullosa and a new enhancer (ESDR 2026) - Sep 9, 2026 - Abstract #496; Pres time: Sep 11, 2026; 04:45 PM - 05:45 PM; Location: Forum 1; "Amlexanox, artesunate, ataluren (PTC124), atazanavir, clitocine, 2,6-diaminopurine, ELX-02, erythromycin, gentamicin (G), and paromomycin (P), which have been shown to promote readthrough activity in other diseases, were evaluated. The eRF1 inhibitor N-Oxalylglycine (NOG) and the eRF3 inhibitor CC90009 were combined with TRIDs...Based on the current data, the stop codon and its surrounding sequence cannot predict the readthrough response to TRIDs in JEB-C17. The observed variability in responses to TRIDs and enhancers among nonsense mutations highlights the importance of patient-derived cellular systems for evaluating readthrough efficacy for personalized therapy."
COL17A1
|
|
Yan Tan; Haifa El Mabrouk; Rui Zhang; Sato Magassa; Cristina Has; Saliha Beysa Sayar
|