Article

Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human

2003-03-14

Abstract excerpt

In human disease and experimental animal models, depressed Ca2+ 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 term...

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Literature Corpus work: eb90ecaf-55ca-5129-ba1d-f46ce2263209
DOI: 10.1172/jci200317892

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