Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

A Repeating Structural Motif in Tropomyosin that is Responsible for Multiple Gain of Function Skeletal Myopathy Mutations

(2013) Steven B. Marston et al.   BIOPHYSICAL JOURNAL

Influence of Actin Mutation on the Energy Landscape of Actin-Tropomyosin Filaments

(2013) Marek Orzechowski et al.   BIOPHYSICAL JOURNAL

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

(2013) Ann E. Davidson et al.   BRAIN

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

(2013) Nancy Mokbel et al.   BRAIN

Gestalt-Binding of tropomyosin on actin during thin filament activation

(2013) William Lehman et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function

(2013) Massimiliano Memo et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Structure of the Rigor Actin-Tropomyosin-Myosin Complex

(2012) Elmar Behrmann et al.   CELL

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms

(2012) J. Ochala et al.   HUMAN MOLECULAR GENETICS

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

(2012) R. K. Jain et al.   NEUROLOGY

Mutations in TPM2 and congenital fibre type disproportion

(2012) Nigel F. Clarke et al.   NEUROMUSCULAR DISORDERS

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

(2012) Mohamed Jarraya et al.   NEUROMUSCULAR DISORDERS

Myopathies associated with β-tropomyosin mutations

(2012) H. Tajsharghi et al.   NEUROMUSCULAR DISORDERS

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness inTPM2-related nemaline and cap myopathy

(2011) Minttu Marttila et al.   BIOCHEMICAL JOURNAL

Tropomyosin Position on F-Actin Revealed by EM Reconstruction and Computational Chemistry

(2011) Xiaochuan (Edward) Li et al.   BIOPHYSICAL JOURNAL

How Do Mutations in Contractile Proteins Cause the Primary Familial Cardiomyopathies?

(2011) Steven B. Marston   Journal of Cardiovascular Translational Research

Structure of the Tropomyosin Overlap Complex from Chicken Smooth Muscle: Insight into the Diversity of N-Terminal Recognition,

(2010) Jeremiah Frye et al.   BIOCHEMISTRY

Investigation of a transgenic mouse model of familial dilated cardiomyopathy

(2010) Weihua Song et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Structural Basis for the Activation of Muscle Contraction by Troponin and Tropomyosin

(2009) William Lehman et al.   JOURNAL OF MOLECULAR BIOLOGY

Pathological defects in congenital myopathies

(2009) Caroline A. Sewry   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation

(2009) I. C. Kiphuth et al.   JOURNAL OF NEUROLOGY

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

(2009) Nigel F. Clarke et al.   NEUROMUSCULAR DISORDERS

Mutations inTPM3are a common cause of congenital fiber type disproportion

(2008) Nigel F. Clarke et al.   ANNALS OF NEUROLOGY

Defective regulation of contractile function in muscle fibres carrying an E41K β-tropomyosin mutation

(2008) Julien Ochala et al.   JOURNAL OF PHYSIOLOGY-LONDON

New morphologic and genetic findings in cap disease associated with  -tropomyosin (TPM2) mutations

(2008) M. Ohlsson et al.   NEUROLOGY

Genotype–phenotype correlations in ACTA1 mutations that cause congenital myopathies

(2008) Juan-Juan Feng et al.   NEUROMUSCULAR DISORDERS