Article
Anticodon-edited tRNA enables translational readthrough of <i>COL4A5</i> premature termination codons
2025-08-09
Abstract excerpt
Alport syndrome is caused by variants in COL4A3 , COL4A4 , or COL4A5 , which encode the α3α4α5 chains of type IV collagen. These variants result in defects in the glomerular basement membrane (GBM) and impaired kidney function. Nonsense variants result in truncated proteins lacking the NC1 domain, thereby preventing proper GBM assembly and function and causing the most severe forms of the disease. Restoring ful...
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Identifiers and source
- Literature Corpus work
- feed76e0-b425-5145-a5fc-f7a042d38480
- DOI
- 10.1101/2025.08.07.669229
