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Title: Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1 -related nemaline myopathy (NEM3): ACTA1 -Related Myopathy

Authors:
 [1];  [1];  [1];  [1];  [1];  [2];  [3];  [4]; ORCiD logo [1];  [5];  [5];  [6];  [7]; ORCiD logo [2];  [8];  [8]; ORCiD logo [9];  [10]
  1. Department of Physiology, VU University Medical Center Amsterdam, Amsterdam the Netherlands
  2. Department of Kinesiology and Physical Education, McGill University, Montreal Quebec Canada
  3. Department of Kinesiology and Physical Education, McGill University, Montreal Quebec Canada; Department of Physiology and Pharmacology, Karolinska Institute, Stockholm Sweden
  4. Department of Molecular and Cellular Biology and Molecular Cardiovascular Research Program, University of Arizona, Tucson AZ
  5. Biophysics Collaborative Access Team, Center for Synchrotron Radiation Research and Instrumentation, and Department of Biological Sciences, Illinois Institute of Technology, Chicago IL
  6. Department of Physiology, VU University Medical Center Amsterdam, Amsterdam the Netherlands; Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Westmead New South Wales Australia; Discipline of Pediatrics and Child Health, University of Sydney, Sydney New South Wales Australia
  7. Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Westmead New South Wales Australia; Discipline of Pediatrics and Child Health, University of Sydney, Sydney New South Wales Australia
  8. Pierre and Marie Curie University/University of Paris VI, Sorbonne Universities, National Institute of Health and Medical Research UMRS974, National Center for Scientific Research FRE3617, Center for Research in Myology, Pitié-Salpêtrière Hospital Group, Paris France
  9. Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston MA
  10. Department of Physiology, VU University Medical Center Amsterdam, Amsterdam the Netherlands; Department of Molecular and Cellular Biology and Molecular Cardiovascular Research Program, University of Arizona, Tucson AZ
Publication Date:
Research Org.:
Argonne National Lab. (ANL), Argonne, IL (United States). Advanced Photon Source (APS)
Sponsoring Org.:
USDOE Office of Science (SC)
OSTI Identifier:
1424758
Resource Type:
Journal Article
Journal Name:
Annals of Neurology
Additional Journal Information:
Journal Volume: 83; Journal Issue: 2; Journal ID: ISSN 0364-5134
Country of Publication:
United States
Language:
ENGLISH

Citation Formats

Joureau, Barbara, de Winter, Josine Marieke, Conijn, Stefan, Bogaards, Sylvia J. P., Kovacevic, Igor, Kalganov, Albert, Persson, Malin, Lindqvist, Johan, Stienen, Ger J. M., Irving, Thomas C., Ma, Weikang, Yuen, Michaela, Clarke, Nigel F., Rassier, Dilson E., Malfatti, Edoardo, Romero, Norma B., Beggs, Alan H., and Ottenheijm, Coen A. C. Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1 -related nemaline myopathy (NEM3): ACTA1 -Related Myopathy. United States: N. p., 2018. Web. doi:10.1002/ana.25144.
Joureau, Barbara, de Winter, Josine Marieke, Conijn, Stefan, Bogaards, Sylvia J. P., Kovacevic, Igor, Kalganov, Albert, Persson, Malin, Lindqvist, Johan, Stienen, Ger J. M., Irving, Thomas C., Ma, Weikang, Yuen, Michaela, Clarke, Nigel F., Rassier, Dilson E., Malfatti, Edoardo, Romero, Norma B., Beggs, Alan H., & Ottenheijm, Coen A. C. Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1 -related nemaline myopathy (NEM3): ACTA1 -Related Myopathy. United States. https://doi.org/10.1002/ana.25144
Joureau, Barbara, de Winter, Josine Marieke, Conijn, Stefan, Bogaards, Sylvia J. P., Kovacevic, Igor, Kalganov, Albert, Persson, Malin, Lindqvist, Johan, Stienen, Ger J. M., Irving, Thomas C., Ma, Weikang, Yuen, Michaela, Clarke, Nigel F., Rassier, Dilson E., Malfatti, Edoardo, Romero, Norma B., Beggs, Alan H., and Ottenheijm, Coen A. C. 2018. "Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1 -related nemaline myopathy (NEM3): ACTA1 -Related Myopathy". United States. https://doi.org/10.1002/ana.25144.
@article{osti_1424758,
title = {Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1 -related nemaline myopathy (NEM3): ACTA1 -Related Myopathy},
author = {Joureau, Barbara and de Winter, Josine Marieke and Conijn, Stefan and Bogaards, Sylvia J. P. and Kovacevic, Igor and Kalganov, Albert and Persson, Malin and Lindqvist, Johan and Stienen, Ger J. M. and Irving, Thomas C. and Ma, Weikang and Yuen, Michaela and Clarke, Nigel F. and Rassier, Dilson E. and Malfatti, Edoardo and Romero, Norma B. and Beggs, Alan H. and Ottenheijm, Coen A. C.},
abstractNote = {},
doi = {10.1002/ana.25144},
url = {https://www.osti.gov/biblio/1424758}, journal = {Annals of Neurology},
issn = {0364-5134},
number = 2,
volume = 83,
place = {United States},
year = {Thu Feb 01 00:00:00 EST 2018},
month = {Thu Feb 01 00:00:00 EST 2018}
}

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Tropomyosin Position on F-Actin Revealed by EM Reconstruction and Computational Chemistry
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Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies
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Muscle weakness in TPM3 -myopathy is due to reduced Ca 2+ -sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres
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Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
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Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene
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Diaphragm Muscle Fiber Weakness and Ubiquitin–Proteasome Activation in Critically Ill Patients
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Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)
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ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings
journal, October 2016


Distinct Underlying Mechanisms of Limb and Respiratory Muscle Fiber Weaknesses in Nemaline Myopathy
journal, June 2013


Recent advances in nemaline myopathy
journal, January 2013


Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy
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A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1
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  • Johnston, Jennifer J.; Kelley, Richard I.; Crawford, Thomas O.
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Pre-power stroke cross bridges contribute to force during stretch of skeletal muscle myofibrils
journal, July 2008


Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
journal, May 2013


Muscle Imaging in Congenital Myopathies
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Heterogeneity of nemaline myopathy cases with skeletal muscle ?-actin gene mutations
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Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy
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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
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Rate of force generation in muscle: correlation with actomyosin ATPase activity in solution.
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K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
journal, January 2013


Myopathology in congenital myopathies
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‘An artefact gone awry’: Identification of the first case of nemaline myopathy by Dr R.D.K. Reye
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A myopathy-related actin mutation increases contractile function
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Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene
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Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
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Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
journal, January 2017


Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms
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Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms
journal, July 2012


Optical detection system for probing cantilever deflections parallel to a sample surface
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Nemaline myopathies: State of the art
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Data on the distribution of fibre types in thirty-six human muscles
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Mutations and polymorphisms of the skeletal muscle α-actin gene ( ACTA1 )
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Magnetic resonance imaging of muscle in nemaline myopathy
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Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy
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Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency
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TPM 3 deletions cause a hypercontractile congenital muscle stiffness phenotype : Hypercontractile Phenotype
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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
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Mutation-specific effects on thin filament length in thin filament myopathy: Thin Filament Myopathy
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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
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Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
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Genotype–phenotype correlations in ACTA1 mutations that cause congenital myopathies
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Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
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A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B
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Modulating myosin restores muscle function in a mouse model of nemaline myopathy: Therapy for Nemaline Myopathy
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A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy
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