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

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Human Molecular Genetics

• Publication date

  2011-05-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/hmg/ddr084PMID 21357678PMCID PMC3080611
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Lifting the nebula: novel insights into skeletal muscle contractility.

  2010cited by this paper
• Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).

  2010cited by this paper
• Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

  2010cited by this paper
• Nebulin plays a direct role in promoting strong actin‐myosin interactions

  2009cited by this paper
• Nebulin Alters Cross-bridge Cycling Kinetics and Increases Thin Filament Activation

  2009cited by this paper
• Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.

  2009cited by this paper
• Relationships between tropomyosin and myosin heavy chain isoforms in bovine skeletal muscle.

  2009cited by this paper
• Length-tension relationship of the external anal sphincter muscle: implications for the anal canal function.

  2008cited by this paper
• Defective regulation of contractile function in muscle fibres carrying an E41K β‐tropomyosin mutation

  2008cited by this paper
• Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

  2008cited by this paper
• Mutations in TPM3 are a common cause of congenital fiber type disproportion

  2008cited by this paper
• Skeletal muscle fatigue: cellular mechanisms.

  2008cited by this paper
• Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

  2007cited by this paper
• Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle

  2006cited by this paper
• Nebulin regulates thin filament length, contractility, and Z‐disk structure in vivo

  2006cited by this paper
• An αtropomyosin mutation alters dimer preference in nemaline myopathy

  2005cited by this paper
• When contractile proteins go bad: the sarcomere and skeletal muscle disease

  2005cited by this paper
• An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

  2005cited by this paper
• Clinical course correlates poorly with muscle pathology in nemaline myopathy

  2003cited by this paper
• Mutations of the slow muscle &agr;-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

  2002cited by this paper
• Skeletal muscle of mice with a mutation in slow α-tropomyosin is weaker at lower lengths

  2002cited by this paper
• Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths.

  2002cited by this paper
• Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.

  2001cited by this paper
• Regulation of contraction in striated muscle.

  2000cited by this paper
• Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.

  2000cited by this paper
• Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

  1999cited by this paper
• Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction.

  1999cited by this paper
• A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.

  1999cited by this paper
• Myofibrillar ATPase activity in skinned human skeletal muscle fibres: fibre type and temperature dependence.

  1996cited by this paper
• A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.

  1995cited by this paper
• Interplay between passive tension and strong and weak binding cross- bridges in insect indirect flight muscle. A functional dissection by gelsolin-mediated thin filament removal

  1993cited by this paper
• Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

  1992cited by this paper
• The molecular basis for tropomyosin isoform diversity

  1991cited by this paper
• Effect of thin filament length on the force-sarcomere length relation of skeletal muscle.

  1991cited by this paper
• Rate of force generation in muscle: correlation with actomyosin ATPase activity in solution.

  1986cited by this paper
• Muscle Biopsy. A Practical Approach

  1986cited by this paper
• Mechanism of adenosine triphosphate hydrolysis by actomyosin.

  1971cited by this paper
• Proposed Mechanism of Force Generation in Striated Muscle

  1971cited by this paper

• Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper‐contractility

  2025cites this paper
• Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy

  2025cites this paper
• Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy

  2023influential citation
• Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents

  2023cites this paper
• Eggshell membrane modulates gut microbiota to prevent murine pre‐cachexia through suppression of T helper cell differentiation

  2022cites this paper
• Cardiomyocyte contractile impairment in heart failure results from reduced BAG3-mediated sarcomeric protein turnover

  2020cites this paper
• Mechanical Properties of Single Muscle Fibers: Understanding Poor Muscle Quality in Older Adults with Diabetes

  2020cites this paper
• Contractile properties are impaired in congenital myopathies.

  2020cites this paper
• Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln147Pro Tropomyosin

  2020cites this paper
• Congenital myopathy‐related mutations in tropomyosin disrupt regulatory function through altered actin affinity and tropomodulin binding

  2019cites this paper
• Sarcomeric myopathies associated with tremor: new insights and perspectives

  2019cites this paper
• Tropomyosin 3.5 protects the F-actin networks required for tissue biomechanical properties

  2018cites this paper
• Hereditary Myopathies

  2018cites this paper
• Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1‐related nemaline myopathy (NEM3)

  2018cites this paper
• Hereditary Myopathies Hereditary Myopathies

  2018cites this paper
• Positive End‐Expiratory Pressure Ventilation Induces Longitudinal Atrophy in Diaphragm Fibers

  2018cites this paper
• Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice

  2018cites this paper
• Nemaline myopathy: pathophysiology and therapeutic targets

  2017cites this paper
• Sarcomere Dysfunction in Nemaline Myopathy

  2017cites this paper
• Current and future therapeutic approaches to the congenital myopathies.

  2017cites this paper
• Novel autosomal dominant TNNT1 mutation causing nemaline myopathy

  2017cites this paper
• Energy cost of isometric force production after active shortening in skinned muscle fibres

  2017cites this paper
• Mutation‐specific effects on thin filament length in thin filament myopathy

  2016cites this paper
• Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.

  2016cites this paper
• Tropomyosin 3 is associated with invasion , migration , and prognosis in esophageal squamous cell carcinoma

  2016cites this paper
• Abnormal movement of tropomyosin and response of myosin heads and actin during the ATPase cycle caused by the Arg167His, Arg167Gly and Lys168Glu mutations in TPM1 gene.

  2016cites this paper
• Gene Discovery in Congenital Myopathy

  2016cites this paper
• Novel myosin-based therapies for congenital cardiac and skeletal myopathies

  2016cites this paper
• The role of MicroRNAs in COPD muscle dysfunction and mass loss: implications on the clinic

  2016cites this paper
• Reduced force of diaphragm muscle fibers in patients with chronic thromboembolic pulmonary hypertension.

  2016cites this paper
• Roles of Nebulin Family Members in the Heart.

  2015cites this paper
• Oxidative stress, redox signaling pathways, and autophagy in cachectic muscles of male patients with advanced COPD and lung cancer.

  2015cites this paper
• Epigenetics and muscle dysfunction in chronic obstructive pulmonary disease.

  2015cites this paper
• Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

  2015influential citation
• Muscle weakness in TPM 3-myopathy is due to reduced Ca 2 +-sensitivity and impaired acto-myosin cross-bridge cycling in slow fi bres

  2015cites this paper
• TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

  2015cites this paper
• Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

  2015cites this paper
• Syndromestiffening of muscle fibers in Ehlers-Danlos

  2015cites this paper
• For Peer Review Muscle weakness in TPM3 -myopathy is due to reduced Ca 2+ - sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

  2015cites this paper
• Diaphragm muscle fiber weakness and ubiquitin-proteasome activation in critically ill patients.

  2015cites this paper
• Alterations at the Cross-Bridge Level Are Associated with a Paradoxical Gain of Muscle Function In Vivo in a Mouse Model of Nemaline Myopathy

  2014cites this paper
• Unaffected contractility of diaphragm muscle fibers in humans on mechanical ventilation.

  2014cites this paper
• Congenital (Structural) Myopathies

  2014cites this paper
• McArdle disease does not affect skeletal muscle fibre type profiles in humans

  2014cites this paper
• Muscle fatigue and muscle weakness: what we know and what we wish we did

  2013cites this paper
• Thin Filament Proteins: Nemaline and Related Congenital Myopathies

  2013cites this paper
• Combined MRI and 31P-MRS Investigations of the ACTA1(H40Y) Mouse Model of Nemaline Myopathy Show Impaired Muscle Function and Altered Energy Metabolism

  2013influential citation
• K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

  2013cites this paper
• Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

  2013influential citation
• Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

  2013cites this paper
• The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse

  2013cites this paper
• Multimodal MRI and 31P-MRS Investigations of the ACTA1(Asp286Gly) Mouse Model of Nemaline Myopathy Provide Evidence of Impaired In Vivo Muscle Function, Altered Muscle Structure and Disturbed Energy Metabolism

  2013cites this paper
• Contractility and kinetics of human fetal and human adult skeletal muscle

  2013cites this paper
• Recent advances in nemaline myopathy

  2013cites this paper
• Diaphragm weakness in pulmonary arterial hypertension: role of sarcomeric dysfunction.

  2012cites this paper
• Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.

  2012cites this paper
• Chapter 74 – Thick and Thin Filament Proteins: Acquired and Hereditary Sarcomeric Protein Diseases

  2012cites this paper
• Thick and Thin Filament Proteins

  2012cites this paper
• Lion (Panthera leo) and caracal (Caracal caracal) type IIx single muscle fibre force and power exceed that of trained humans

  2012cites this paper
• Thin-filament length correlates with fiber type in human skeletal muscle.

  2012cites this paper
• Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

  2012influential citation
• The Sarcomeric Protein Nebulin: Another Multifunctional Giant in Charge of Muscle Strength Optimization

  2012cites this paper
• A myopathy-related actin mutation increases contractile function

  2012cites this paper
• Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome.

  2012cites this paper
• neb: a zebrafish model of nemaline myopathy due to nebulin mutation

  2011cites this paper
• Congenital fiber-type disproportion.

  2011cites this paper