CJASN had a sterling visual abstract from Michelle Rheault. Here it is
Harish Seethapathy put together this week’s visual abstract. Stunningly good work.
Some cases of ADTKD are due to mutations of the MUC-1 gene, one mutation is a frame shift mutation that results in a premature stop codon. which results in accumulation of the abnormally short, and toxic protein MUC-1 fs . The researchers found a small protein, BRD4780, that reroute MUC-1fs to lysosomes, preventing proteinopathy and possibly altering the natural history of the disease.
Itunu Owoyemi discusses use of a needle core biopsy to diagnose CUA in a dialysis patients. What are the implications of bringing this technique to this difficult to diagnose disease?