KCNJ13
Potassium channel Kir7.1; critical for RPE ion transport
Preklinik Araştırma
No clinical trial or company program. Academic proof-of-concept: nonviral adenine base editing of a KCNJ13 nonsense mutation (W53X) preserved vision in a mouse model (Kabra et al., J Clin Invest 2023), and gene augmentation / readthrough rescued function in patient iPSC-derived RPE (Shahi et al., Am J Hum Genet 2019). In 2026 the same UW-Madison group advanced a mutation-targeted 'nonsense suppression' strategy: an anticodon-engineered suppressor tRNA (ACE-tRNA) that forces read-through of the W53X stop codon restored full-length Kir7.1 and channel function in patient iPSC-RPE and partially rescued RPE physiology in a W53X mouse (Shahi et al., Signal Transduct Target Ther 2026). Work led by academic groups (UW-Madison); models: mouse and patient iPSC-RPE; no clinical trial exists.
Kaynaklı ve atıflı — henüz uzman incelemesinden geçmedi
Buradaki her ifade atıf yapılan birincil bir kaynağa dayanır, ancak bu sayfa henüz bir uzman tarafından resmi olarak incelenmedi.
2q37.1
Otozomal Resesif
<1% LCA vakalarının
Temel Klinik Özellikler
- 1RPE potassium channel dysfunction
- 2Very rare