Article
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
The Journal of clinical investigation - 1 Mar 2003
Haghighi Kobra, Kolokathis Fotis, Pater Luke, Lynch Roy A, Asahi Michio, Gramolini Anthony O, Fan Guo-Chang, Tsiapras Dimitris, Hahn Harvey S, Adamopoulos Stamatis, Liggett Stephen B, Dorn Gerald W, MacLennan David H, Kremastinos Dimitrios T, Kranias Evangelia G
Abstract excerpt
In human disease and experimental animal models, depressed Ca(2+) handling in failing cardiomyocytes is widely attributed to impaired sarcoplasmic reticulum (SR) function. In mice, disruption of the PLN gene encoding phospholamban (PLN) or expression of dominant-negative PLN mutants enhances SR and cardiac function, but effects of PLN mutations in humans are unknown. Here, a T116G point mutation, substituting a...
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