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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?
Nice visual abstract by Krithika Mohan. Excellent work.