An mRNA assay system demonstrates proteasomal-specific degradation contributes to cardiomyopathic phospholamban null mutation.
Eduarde RohnerNevin WitmanJesper SohlmerErwin De GenstWilliam E LouchMakoto SaharaKenneth R ChienPublished in: Molecular medicine (Cambridge, Mass.) (2021)
Our results demonstrate that the cardiomyopathic PLN null mutant L39X is rapidly, actively and specifically degraded by proteasomal pathways. Herein, and to the best of our knowledge, we report for the first time the usage of modified mRNAs to screen for and illuminate alternative molecular pathways found in genes associated with inherited cardiomyopathies.