Another fantastic chat. (and while you are at it - check out the two patient perspectives!)
Meta
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Background
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.
Background
This week is a joint #DermJC and #NephJC. We will discuss two articles - here is the summary of the larger case series, from Vandana Niyyar.
