Article
Progressive renal injury from transgenic expression of human carbonic anhydrase IV folding mutants is enhanced by deficiency of p58IPK.
Proceedings of the National Academy of Sciences of the United States of America - 6 Apr 2010
Datta Rupak, Shah Gul N, Rubbelke Timothy S, Waheed Abdul, Rauchman Michael, Goodman Alan G, Katze Michael G, Sly William S
Abstract excerpt
Mutations in the human carbonic anhydrase IV (hCAIV) have been associated with retinal degeneration in an autosomal-dominant form of retinitis pigmentosa (RP17). Prior in vitro cell culture studies confirmed that all of the RP17-associated hCAIV mutations cause protein misfolding, leading to endoplasmic reticulum (ER) stress-induced apoptosis in cells expressing the mutant proteins. To evaluate the physiological...
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