Nonsense mutations introduce premature termination codons (PTCs) that trigger mRNA degradation and underlie genetic diseases, including Alport syndrome (AS). Suppressor tRNAs (sup-tRNAs) are potential therapies for such disorders, as they can precisely readthrough PTCs and restore full-length protei...
Alport mouse model (Col4a5) have been submitted for proteomic analysis. Glomeruli have been isolated from mouse kidneys, extracellular matrix has been enriched and analysed by mass spectrometry.
Chronic kidney disease (CKD) is characterised by kidney fibrosis and represents a major public health concern. Alport syndrome, a common monogenic cause of kidney failure caused by genetic variants in the type IV collagen genes COL4A3, COL4A4or COL4A5, leads to abnormal basement membrane remodelling...
