2025
Screening single nucleotide changes to tropomyosin to identify novel cardiomyopathy mutants
Wen J, Campbell S, Moore J, Lehman W, Rynkiewicz M. Screening single nucleotide changes to tropomyosin to identify novel cardiomyopathy mutants. Journal Of Molecular And Cellular Cardiology 2025, 203: 82-90. PMID: 40268117, PMCID: PMC12135046, DOI: 10.1016/j.yjmcc.2025.04.009.Peer-Reviewed Original ResearchConceptsDeleterious effects of mutationsTropomyosin-actin interactionsSingle nucleotide mutationsEffects of mutationsThin filament regulationDilated CardiomyopathyTropomyosin sequencesActin interactionNucleotide mutationsFilament regulationMutation-sensitiveSubcellular unitsMutantsPathological cardiac remodelingTropomyosinActinThin filamentsEarly therapeutic interventionFunctional analysisMutationsInherited cardiomyopathyCardiac remodelingCardiac functionRegulatory BCardiomyopathy
2007
COMPUTATIONAL CHARACTERIZATION OF MUTATIONS IN CARDIAC TROPONIN T KNOWN TO CAUSE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
Guinto PJ, Manning EP, Schwartz SD, Tardiff JC. COMPUTATIONAL CHARACTERIZATION OF MUTATIONS IN CARDIAC TROPONIN T KNOWN TO CAUSE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY. Journal Of Computational Biophysics And Chemistry 2007, 6: 413-419. PMID: 26500385, PMCID: PMC4617307, DOI: 10.1142/s0219633607003271.Peer-Reviewed Original ResearchNormal protein-protein interactionsHelical regionProtein-protein interactionsFHC mutationsTail domainWild typeResidue 105Helical turnCentral modulatorThin filament regulationFunctional implicationsPoint mutationsMutation sitesFamilial hypertrophic cardiomyopathyRamachandran plotMutationsResiduesStructural dataHelixThin filamentsMolecular dynamics simulationsMutantsMyofilament activationTnt1Computational characterization
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