The pathogenesis of ACTA1-related congenital fiber type disproportion (Q33280093)

25 July 2017

title

The pathogenesis of ACTA1-related congenital fiber type disproportion (English)

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25 July 2017

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Phillip J Robinson

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Kathryn North

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Nigel F Clarke

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Biljana Ilkovski

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Sandra Cooper

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Valentina A Valova

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Ikuya Nonaka

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Juan-Juan Feng

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Steven Marston

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publication date

1 June 2007

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25 July 2017

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25 July 2017

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25 July 2017

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25 July 2017

page(s)

552-561

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Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

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cites work

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Actin mutations are one cause of congenital fibre type disproportion

21 January 2018

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Missense mutations of ACTA1 cause dominant congenital myopathy with cores

21 January 2018

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Clinical course correlates poorly with muscle pathology in nemaline myopathy.

21 January 2018

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Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

21 January 2018

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Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

21 January 2018

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Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

21 January 2018

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The brain exocyst complex interacts with RalA in a GTP-dependent manner: identification of a novel mammalian Sec3 gene and a second Sec15 gene

21 January 2018

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Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy

21 January 2018

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Actin residue glu(93) is identified as an amino acid affecting myosin binding.

21 January 2018

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Troponin I and troponin T interact with troponin C to produce different Ca2+-dependent effects on actin–tropomyosin filament motility

21 January 2018

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Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy

21 January 2018

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Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

21 January 2018

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Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

21 January 2018

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Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

21 January 2018

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Tropomyosin and troponin regulation of wild type and E93K mutant actin filaments from Drosophila flight muscle. Charge reversal on actin changes actin-tropomyosin from on to off state

21 January 2018

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E93K charge reversal on actin perturbs steric regulation of thin filaments

21 January 2018

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An atomic model of the thin filament in the relaxed and Ca2+-activated states.

21 January 2018

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Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype

21 January 2018

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Congenital fiber type disproportion--30 years on.

21 January 2018

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Single section Western blot: Improving the molecular diagnosis of the muscular dystrophies

21 January 2018

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Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.21112

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25 July 2017

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