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Data presented in this work indicate that these mutant proteins are defective at the initiation stage of the AP2 assembly pathwaythe recruitment and pairing of and 2 into a hemicomplex

Specific human PLN mutations cause dilated cardiomyopathy: one mutation functions as a chronic SERCA2a inhibitor, whereas another destabilizes PLN, resulting in a PLN-null phenotype

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Hutterer A, Berdnik D, Wirtz-Peitz F, igman M, Schleiffer A, Knoblich JA