2012
Molecular Effects of Familial Hypertrophic Cardiomyopathy-Related Mutations in the TNT1 Domain of cTnT
Manning EP, Tardiff JC, Schwartz SD. Molecular Effects of Familial Hypertrophic Cardiomyopathy-Related Mutations in the TNT1 Domain of cTnT. Journal Of Molecular Biology 2012, 421: 54-66. PMID: 22579624, PMCID: PMC3545441, DOI: 10.1016/j.jmb.2012.05.008.Peer-Reviewed Original ResearchConceptsFamilial hypertrophic cardiomyopathyHypertrophic cardiomyopathyCommon genetic causePathways of propagation
2009
Structural and Functional Characterization of Cardiac Troponin T Mutations in the TNT1 Domain That Cause Familial Hypertrophic Cardiomyopathy
Guinto P, Manning E, Moore R, Schwartz S, Tardiff J. Structural and Functional Characterization of Cardiac Troponin T Mutations in the TNT1 Domain That Cause Familial Hypertrophic Cardiomyopathy. Biophysical Journal 2009, 96: 499a. DOI: 10.1016/j.bpj.2008.12.2575.Peer-Reviewed Original ResearchCardiac troponin T mutationsTroponin T mutationsFamilial hypertrophic cardiomyopathyHypertrophic cardiomyopathyT mutationCardiomyopathy
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