Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy (Q28252989)

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Mikaela Grönholm

object named as

Mikaela Grönholm

8

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Nigel G Laing

object named as

Nigel G Laing

6

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author name string

Elina Lemola

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William Wallefeld

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Massimiliano Memo

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Steven Marston

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Carina Wallgren-Pettersson

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

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language of work or name

English

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publication date

15 February 2012

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published in

Biochemical Journal

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volume

442

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issue

1

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page(s)

231-9

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cites work

1 reference

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

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Mutations in the beta-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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Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

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Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2

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Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

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New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations

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Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

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Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

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Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

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Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres

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Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function

21 April 2017

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DICHROWEB, an online server for protein secondary structure analyses from circular dichroism spectroscopic data

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Protein secondary structure analyses from circular dichroism spectroscopy: methods and reference databases

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Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

21 January 2018

1 reference

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Vertebrate tropomyosin: distribution, properties and function

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An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

21 January 2018

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A simple method for automatic tracking of actin filaments in the motility assay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111030

Tropomyosin-based regulation of the actin cytoskeleton in time and space

21 January 2018

1 reference

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Slow irreversible unfolding of Pyrococcus furiosus triosephosphate isomerase: separation and quantitation of conformers through a novel electrophoretic approach.

21 January 2018

1 reference

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Detergent binding explains anomalous SDS-PAGE migration of membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111030

The shape and flexibility of tropomyosin coiled coils: implications for actin filament assembly and regulation.

21 January 2018

1 reference

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Structure of the mid-region of tropomyosin: bending and binding sites for actin

21 January 2018

1 reference

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A peek into tropomyosin binding and unfolding on the actin filament

21 January 2018

1 reference

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Integral repeats and a continuous coiled coil are required for binding of striated muscle tropomyosin to the regulated actin filament

21 January 2018

1 reference

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Proline affects oligomerization of a coiled coil by inducing a kink in a long helix

21 January 2018

1 reference

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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

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111030

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

21 January 2018

1 reference

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The pathogenesis of ACTA1-related congenital fiber type disproportion

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111030

Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111030

TPM3 mutation in one of the original cases of cap disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111030

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111030

Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20111030

21 January 2018

Identifiers

DOI

10.1042/BJ20111030

1 reference

Consolidated OpenCitations Corpus – April 2017

release_dmlvdk4pdzbylgnbgm5wxljo3i

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dmlvdk4pdzbylgnbgm5wxljo3i

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

22084935

1 reference

Consolidated OpenCitations Corpus – April 2017