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

No abstract is available for this paper.

• Publication year

  2008

• Venue

  Journal of Physiology

• Publication date

  2008-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1113/jphysiol.2008.153650PMID 18420702PMCID PMC2517209
• 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.

• Mutations in TPM3 are a common cause of congenital fiber type disproportion

  2008cited by this paper
• Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation

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  2007cited by this paper
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  2007cited by this paper
• Mutations in fast skeletal troponin I, troponin T, and β‐tropomyosin that cause distal arthrogryposis all increase contractile function

  2007cited by this paper
• Effects of a R133W β‐tropomyosin mutation on regulation of muscle contraction in single human muscle fibres

  2007cited by this paper
• Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

  2007cited by this paper
• Dual requirement for flexibility and specificity for binding of the coiled-coil tropomyosin to its target, actin.

  2006cited by this paper
• E93K charge reversal on actin perturbs steric regulation of thin filaments.

  2005cited by this paper
• Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction–relaxation cycle in isolated cardiac myofibrils

  2005cited by this paper
• Dilated Cardiomyopathy Mutations in Three Thin Filament Regulatory Proteins Result in a Common Functional Phenotype*

  2005influential reference
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  2005cited by this paper
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  2004cited by this paper
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  2003cited by this paper
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  2003cited by this paper
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  2003cited by this paper
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  2003cited by this paper
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  2003cited by this paper
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  2002cited by this paper
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  2002cited by this paper
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  2002cited by this paper
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  2001cited by this paper
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  2001cited by this paper
• Structure of the C-domain of Human Cardiac Troponin C in Complex with the Ca2+ Sensitizing Drug EMD 57033*

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  2000cited by this paper
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  1999cited by this paper
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  1999cited by this paper
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  1998cited by this paper
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  1998influential reference
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  1997cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1997cited by this paper
• Exchange of - for -Tropomyosin in Hearts of Transgenic Mice Induces Changes in Thin Filament Response to Ca, Strong Cross-bridge Binding, and Protein Phosphorylation (*)

  1996cited by this paper
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  1996cited by this paper
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  1995cited by this paper
• Corrigendum: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1

  1995cited by this paper
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  1995cited by this paper
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  1995cited by this paper
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  1995cited by this paper
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  1995cited by this paper
• Novel missense mutation in α-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy

  1995cited by this paper
• Erratum: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1 (Nature Genetics (1995) 9 (75-79))

  1995cited by this paper
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  1994cited by this paper
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  1988cited by this paper
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• Myopathy‐linked mutations in TPM2 and their impact on troponin‐mediated regulation of actomyosin contractility

  2025cites this paper
• Congenital myopathies: pathophysiological mechanisms and promising therapies

  2024cites this paper
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  2023cites this paper
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  2021cites this paper
• Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

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  2018cites this paper
• The Effect of the Arg91Gly and Glu139del Mutations in β-Tropomyosin Associated with Congenital Myopathy of Human Skeletal Muscles on Actin–Myosin Interaction

  2018cites this paper
• The Effect of the Arg91Gly and Glu139del Mutations in β-Tropomyosin Associated with Congenital Myopathy of Human Skeletal Muscles on Actin–Myosin Interaction

  2018cites this paper
• The reason for the low Ca2+-sensitivity of thin filaments associated with the Glu41Lys mutation in the TPM2 gene is "freezing" of tropomyosin near the outer domain of actin and inhibition of actin monomer switching off during the ATPase cycle.

  2018cites this paper
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  2016cites this paper
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  2015cites this paper
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  2015cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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