Article
An mRNA assay system demonstrates proteasomal-specific degradation contributes to cardiomyopathic phospholamban null mutation.
Molecular medicine (Cambridge, Mass.) - 8 Sept 2021
Rohner Eduarde, Witman Nevin, Sohlmer Jesper, De Genst Erwin, Louch William E, Sahara Makoto, Chien Kenneth R
Abstract excerpt
BACKGROUND: The human L39X phospholamban (PLN) cardiomyopathic mutant has previously been reported as a null mutation but the detailed molecular pathways that lead to the complete lack of detectable protein remain to be clarified. Previous studies have shown the implication between an impaired cellular degradation homeostasis and cardiomyopathy development. Therefore, uncovering the underlying mechanism...
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