TPM3deletions cause a hypercontractile congenital muscle stiffness phenotype

Energy landscapes reveal the myopathic effects of tropomyosin mutations

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

Tropomyosin movement on F-actin during muscle activation explained by energy landscapes

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

An Atomic Model of the Tropomyosin Cable on F-actin

(2014) Marek Orzechowski et al.   BIOPHYSICAL JOURNAL

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies

(2014) Minttu Marttila et al.   HUMAN MUTATION

Contractile Dysfunction of Left Ventricular Cardiomyocytes in Patients With Pulmonary Arterial Hypertension

(2014) Emmy Manders et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

(2014) Edoardo Malfatti et al.   Acta Neuropathologica Communications

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

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

(2013) Massimiliano Memo et al.   CARDIOVASCULAR RESEARCH

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

(2013) Steven Marston et al.   HUMAN MOLECULAR GENETICS

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

(2013) Michael A. Gonzalez et al.   HUMAN MUTATION

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

(2013) Josine Marieke de Winter et al.   JOURNAL OF MEDICAL GENETICS

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

Novel TPM3 mutation in a family with cap myopathy and review of the literature

(2013) T. Schreckenbach et al.   NEUROMUSCULAR DISORDERS

Myofibrillar Ca2+ sensitivity is uncoupled from troponin I phosphorylation in hypertrophic obstructive cardiomyopathy due to abnormal troponin T

(2012) Christopher R. Bayliss et al.   CARDIOVASCULAR RESEARCH

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

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

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

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy

(2011) C. A. C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

(2010) Marc R. Del Bigio et al.   ANNALS OF NEUROLOGY

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

(2009) C. A.C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)

(2009) Coen A.C. Ottenheijm et al.   JOURNAL OF STRUCTURAL BIOLOGY

TPM3 mutation in one of the original cases of cap disease

(2009) M. Ohlsson et al.   NEUROLOGY

A TPM3 mutation causing cap myopathy

(2009) Andre Maues De Paula et al.   NEUROMUSCULAR DISORDERS

Mutations inTPM3are a common cause of congenital fiber type disproportion

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

Effect of Inorganic Phosphate on the Force and Number of Myosin Cross-Bridges During the Isometric Contraction of Permeabilized Muscle Fibers from Rabbit Psoas

(2008) Marco Caremani et al.   BIOPHYSICAL JOURNAL

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

(2008) Vilma-Lotta Lehtokari et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structural basis for tropomyosin overlap in thin (actin) filaments and the generation of a molecular swivel by troponin-T

(2008) K. Murakami et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA