Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E40K
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TPM1

NM_001018005.2:p.E40K

Associated Papers

Calcium handling remodeling in dilated cardiomyopathy: From molecular mechanisms to targeted therapies.

Wang Y et al.

Channels (austin, Tex.), 2025

Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.

Zaklyazminskaya EV et al.

International Journal of Molecular Sciences, 2024

Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.

Azimi A et al.

Esc Heart Failure, 2024

Functional assays reveal the pathogenic mechanism of a de novo tropomyosin variant identified in patient with dilated cardiomyopathy.

Barrick SK et al.

Journal of Molecular and Cellular Cardiology, 2023

Mechanisms of pathogenicity in the hypertrophic cardiomyopathy-associated TPM1 variant S215L.

Halder SS et al.

Pnas Nexus, 2023

Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure.

Giri P et al.

Heart Failure Reviews, 2022

Genetic predisposition study of heart failure and its association with cardiomyopathy.

Kaviarasan V et al.

The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2022

Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review.

Man Y et al.

Medicine, 2022

Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.

Keyt LK et al.

Frontiers in Cardiovascular Medicine, 2022

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

Tropomyosin pseudo-phosphorylation can rescue the effects of cardiomyopathy-associated mutations.

Nefedova VV et al.

International Journal of Biological Macromolecules, 2021

Dilated cardiomyopathy mutations in thin-filament regulatory proteins reduce contractility, suppress systolic Ca2+, and activate NFAT and Akt signaling.

Robinson P et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2020

Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.

Moraczewska J

Journal of Muscle Research and Cell Motility, 2020

Cardiomyopathy-associated mutations in tropomyosin differently affect actin-myosin interaction at single-molecule and ensemble levels.

Kopylova GV et al.

Journal of Muscle Research and Cell Motility, 2019

Association of single nucleotide polymorphisms in the 3'UTR region of TPM1 gene with dilated cardiomyopathy: A case-control study.

Yao Q et al.

Medicine, 2019

The Effect of Tropomyosin Mutations on Actin-Tropomyosin Binding: In Search of Lost Time.

Lehman W et al.

Biophysical Journal, 2019

Moving beyond simple answers to complex disorders in sarcomeric cardiomyopathies: the role of integrated systems.

Deranek AE et al.

Pflugers Archiv : European Journal of Physiology, 2019

Combinatorial interactions of genetic variants in human cardiomyopathy.

Deacon DC et al.

Nature Biomedical Engineering, 2019

Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction.

Takasaki A et al.

Pediatric Research, 2018

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

Farman GP et al.

Archives of Biochemistry and Biophysics, 2018

Functional role of the core gap in the middle part of tropomyosin.

Matyushenko AM et al.

The Febs Journal, 2018

Structural destabilization of tropomyosin induced by the cardiomyopathy-linked mutation R21H.

Ly T et al.

Protein Science : a Publication of the Protein Society, 2018

Molecular Defects in Cardiac Myofilament Ca2+-Regulation Due to Cardiomyopathy-Linked Mutations Can Be Reversed by Small Molecules Binding to Troponin.

Sheehan A et al.

Frontiers in Physiology, 2018

Structural and Functional Effects of Cardiomyopathy-Causing Mutations in the Troponin T-Binding Region of Cardiac Tropomyosin.

Matyushenko AM et al.

Biochemistry, 2017

Effect of Cardiomyopathic Mutations in Tropomyosin on Calcium Regulation of the Actin-Myosin Interaction in Skeletal Muscle.

Kopylova GV et al.

Bulletin of Experimental Biology and Medicine, 2016

Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?

Marston SB

Frontiers in Physiology, 2016

Uncoupling of myofilament Ca2+ sensitivity from troponin I phosphorylation by mutations can be reversed by epigallocatechin-3-gallate.

Papadaki M et al.

Cardiovascular Research, 2015

Noncanonical roles for Tropomyosin during myogenesis.

Williams J et al.

Development (cambridge, England), 2015

Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.

Nagueh SF et al.

Jacc. Cardiovascular Imaging, 2015

Impaired tropomyosin-troponin interactions reduce activation of the actin thin filament.

Robaszkiewicz K et al.

Biochimica Et Biophysica Acta, 2015

Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.

Gupte TM et al.

The Journal of Biological Chemistry, 2015

Energy landscapes reveal the myopathic effects of tropomyosin mutations.

Orzechowski M et al.

Archives of Biochemistry and Biophysics, 2014

Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P.

Bai F et al.

Journal of Molecular and Cellular Cardiology, 2014

Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy.

Messer AE et al.

Frontiers in Physiology, 2014

Structural and protein interaction effects of hypertrophic and dilated cardiomyopathic mutations in alpha-tropomyosin.

Chang AN et al.

Frontiers in Physiology, 2014

A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium.

Bai F et al.

Journal of Muscle Research and Cell Motility, 2013

Nuclear tropomyosin and troponin in striated muscle: new roles in a new locale?

Chase PB et al.

Journal of Muscle Research and Cell Motility, 2013

Alpha-tropomyosin mutations in inherited cardiomyopathies.

Redwood C et al.

Journal of Muscle Research and Cell Motility, 2013

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.

Memo M et al.

Cardiovascular Research, 2013

A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding.

van de Meerakker JB et al.

Biochimica Et Biophysica Acta, 2013

Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.

Teekakirikul P et al.

The Journal of Molecular Diagnostics : Jmd, 2013

[Abnormal tropomyosin function in ATPase cycle in hypertrophic and dilated cardiomyopathies].

Borovikov IuS et al.

Rossiiskii Fiziologicheskii Zhurnal Imeni I.m. Sechenova, 2013

Dilated cardiomyopathy: a disease of the myocardium.

Sanbe A

Biological & Pharmaceutical Bulletin, 2013

The effect of the Asp175Asn and Glu180Gly TPM1 mutations on actin-myosin interaction during the ATPase cycle.

Rysev NA et al.

Biochimica Et Biophysica Acta, 2012

Integrative structural modelling of the cardiac thin filament: energetics at the interface and conservation patterns reveal a spotlight on period 2 of tropomyosin.

Margaret Sunitha S et al.

Bioinformatics and Biology Insights, 2012

DCM-related tropomyosin mutants E40K/E54K over-inhibit the actomyosin interaction and lead to a decrease in the number of cycling cross-bridges.

Bai F et al.

Plos One, 2012

Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

Song W et al.

The Journal of Biological Chemistry, 2011

The effect of the dilated cardiomyopathy-causing Glu40Lys TPM1 mutation on actin-myosin interactions during the ATPase cycle.

Borovikov YS et al.

Biochemical and Biophysical Research Communications, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."