Why the study?
Do familial hypertrophic cardiomyopathy missense mutations in myosin heavy chain alter protein stability or thick filament assembly in vitro?
Population
COS cells transfected with constructs encoding wild-type rat alpha myosin heavy chain and seven…
Comparison
Transfection with FHC missense mutant MHC… vs Transfection with wild-type rat alpha MHC…
Design
Preclinical
Authors
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In vitro FHC myosin defects are hypothesis-generating; leaves open mechanistic role in human disease and needs in vivo validation.
Do familial hypertrophic cardiomyopathy missense mutations in myosin heavy chain alter protein stability or thick filament assembly in vitro?
Familial hypertrophic cardiomyopathy missense mutations in myosin heavy chain impair thick filament assembly properties without grossly altering protein stability in vitro.
Straceski et al. (1994) studied this question.
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