Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament

Cardiomyopathic troponin mutations predominantly occur at its interface with actin and tropomyosin

(2021) Larry S. Tobacman et al.   JOURNAL OF GENERAL PHYSIOLOGY

Complexity in genetic cardiomyopathies and new approaches for mechanism-based precision medicine

(2021) Michael J. Greenberg et al.   JOURNAL OF GENERAL PHYSIOLOGY

C-terminal troponin-I residues trap tropomyosin in the muscle thin filament blocked-state

(2021) William Lehman et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The structure of the native cardiac thin filament at systolic Ca2+ levels

(2021) Cristina M. Risi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Investigation of the Recovery Stroke and ATP Hydrolysis and Changes Caused Due to the Cardiomyopathic Point Mutations in Human Cardiac β Myosin

(2021) Ananya Chakraborti et al.   JOURNAL OF PHYSICAL CHEMISTRY B

Cryo-EM structures of cardiac thin filaments reveal the 3D architecture of troponin

(2020) Toshiyuki Oda et al.   JOURNAL OF STRUCTURAL BIOLOGY

Cardiac muscle thin filament structures reveal calcium regulatory mechanism

(2020) Yurika Yamada et al.   Nature Communications

Protein-protein docking reveals dynamic interactions of tropomyosin on actin filaments

(2020) Elumalai Pavadai et al.   BIOPHYSICAL JOURNAL

Cryo-EM and Molecular Docking Shows Myosin Loop 4 Contacts Actin and Tropomyosin on Thin Filaments

(2020) Matthew H. Doran et al.   BIOPHYSICAL JOURNAL

Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants

(2020) Anthony M. Pettinato et al.   CIRCULATION

Troponin Revealed: Uncovering the Structure of the Thin Filament On-Off Switch in Striated Muscle

(2020) Larry S. Tobacman   BIOPHYSICAL JOURNAL

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

(2019) Roddy Walsh et al.   Genome Medicine

Proof of Principle that Molecular Modeling Followed by a Biophysical Experiment Can Develop Small Molecules that Restore Function to the Cardiac Thin Filament in the Presence of Cardiomyopathic Mutations

(2019) Lukasz Szatkowski et al.   ACS Omega

FRET-based analysis of the cardiac troponin T linker region reveals the structural basis of the hypertrophic cardiomyopathy-causing Δ160E mutation

(2019) Salwa Abdullah et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Docking Troponin T onto the Tropomyosin Overlapping Domain of Thin Filaments

(2019) Elumalai Pavadai et al.   BIOPHYSICAL JOURNAL

HCM and DCM cardiomyopathy-linked α-tropomyosin mutations influence off-state stability and crossbridge interaction on thin filaments

(2018) Gerrie P. Farman et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Mechanism of Cardiac Tropomyosin Transitions on Filamentous Actin As Revealed by All-Atom Steered Molecular Dynamics Simulations

(2018) Michael R. Williams et al.   Journal of Physical Chemistry Letters

Effects of the cardiomyopathy-causing E244D mutation of troponin T on the structures of cardiac thin filaments studied by small-angle X-ray scattering

(2018) Tatsuhito Matsuo et al.   JOURNAL OF STRUCTURAL BIOLOGY

The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy

(2017) M.L. Lynn et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Interplay between Protein Thermal Flexibility and Kinetic Stability

(2017) Andrea G. Quezada et al.   STRUCTURE

The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants

(2016) Nouf S. Al-Numair et al.   BIOINFORMATICS

Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy

(2016) Nathan D. Bales et al.   PEDIATRIC CARDIOLOGY

Atomic resolution probe for allostery in the regulatory thin filament

(2016) Michael R. Williams et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation

(2016) Julian R. Homburger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM

(2015) Deepa Selvi Rani et al.   DNA AND CELL BIOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Energy landscapes reveal the myopathic effects of tropomyosin mutations

(2014) Marek Orzechowski et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

Conserved Asp-137 Is Important for both Structure and Regulatory Functions of Cardiac α-Tropomyosin (α-TM) in a Novel Transgenic Mouse Model Expressing α-TM-D137L

(2013) Sumeyye Yar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Familial hypertrophic cardiomyopathy related E180G mutation increases flexibility of human cardiac α-tropomyosin

(2012) Campion K.P. Loong et al.   FEBS LETTERS

Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy

(2011) Daniel M. Jordan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Several cardiomyopathy causing mutations on tropomyosin either destabilize the active state of actomyosin or alter the binding properties of tropomyosin

(2011) Mohit C. Mathur et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Enhanced Active Cross-Bridges during Diastole: Molecular Pathogenesis of Tropomyosin's HCM Mutations

(2011) Fan Bai et al.   BIOPHYSICAL JOURNAL

Thin Filament Mutations

(2011) Jil C. Tardiff   CIRCULATION RESEARCH

Facilitated Cross-Bridge Interactions with Thin Filaments by Familial Hypertrophic Cardiomyopathy Mutations inα-Tropomyosin

(2011) Fang Wang et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

CHARMM: The biomolecular simulation program

(2009) B. R. Brooks et al.   JOURNAL OF COMPUTATIONAL CHEMISTRY