Key result
In a cMyBP-C knock-in mouse model, a single point mutation produced multiple mutant mRNAs, with mutant protein levels regulated by nonsense-mediated mRNA decay and the ubiquitin-proteasome system.
Population
cMyBP-C knock-in mice carrying a point mutation and cultured cardiac myocytes
Comparison
Inhibition of nonsense-mediated mRNA decay or… vs Untreated/control mice or myocytes
Design
Preclinical
Authors
Loading...
Implicates NMD and UPS in mutant cMyBP-C regulation; hypothesis-generating in mouse models, leaves open human translation.
Nonsense-mediated mRNA decay and the ubiquitin-proteasome system both play critical roles in regulating the levels of mutant cMyBP-C proteins in a mouse model of hypertrophic cardiomyopathy.
Vignier et al. (2009) studied Hypertrophic cardiomyopathy. cMyBP-C knock-in point mutation vs. Wild-type or untreated was evaluated on Level of cMyBP-C mRNAs and mutant proteins. In a cMyBP-C knock-in mouse model, a single point mutation produced multiple mutant mRNAs, with mutant protein levels regulated by nonsense-mediated mRNA decay and the ubiquitin-proteasome system.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: