Dr Singh provides his view on this week’s paper in a tight tweetorial.
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.
This was NephJC’s first Tweetorial. We hope to make these regular components of the content NephJC generates to describe and disseminate the latest research.
NSMC Intern Daniyal Jafree stepped up to write an excellent tweetorial on the latest NephJC discussion. Take a look.