(Q30513866)

11 August 2017

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation (English)

1 reference

11 August 2017

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1 reference

William R Telfer

1

1 reference

11 August 2017

Darcee D Nelson

2

1 reference

11 August 2017

Trent Waugh

3

1 reference

11 August 2017

Susan V Brooks

4

1 reference

11 August 2017

James J Dowling

5

1 reference

11 August 2017

language of work or name

1 reference

12 December 2011

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Disease Models & Mechanisms

11 August 2017

1 reference

11 August 2017

5

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11 August 2017

3

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11 August 2017

389-396

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Creative Commons Attribution 2.0 Generic

11 August 2017

start time

18 May 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Nebulin, a major player in muscle health and disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

The Nebulin family: an actin support group

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Lifting the nebula: novel insights into skeletal muscle contractility

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Nebulin regulates actin filament lengths by a stabilization mechanism.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Zebrafish models of collagen VI-related myopathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Reduced thin filament length in nebulin-knockout skeletal muscle alters isometric contractile properties

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Structure and function of skeletal muscle in zebrafish early larvae

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Nebulin regulates the assembly and lengths of the thin filaments in striated muscle

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

The zebrafish as a model for muscular dystrophy and congenital myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Nemaline myopathy: a clinical study of 143 cases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Direct observation of failing fibers in muscles of dystrophic mice provides mechanistic insight into muscular dystrophy.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Time course of the development of motor behaviors in the zebrafish embryo.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339832

Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden

26 November 2018

1 reference

12 December 2020

Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths

1 reference

12 December 2020

Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy

1 reference

12 December 2020

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

1 reference

12 December 2020

Identifiers

DOI

10.1242/DMM.008631

1 reference

11 August 2017

1 reference

11 August 2017

1 reference