Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations (Q34338251)

1 August 2017

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations (English)

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1 August 2017

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7

Ger J M Stienen

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1 August 2017

Alan H Beggs

9

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Nigel F Clarke

6

object named as

Nigel F Clarke

1 reference

1 August 2017

Josine Marieke de Winter

1

1 reference

1 August 2017

Danielle Buck

2

1 reference

1 August 2017

Carlos Hidalgo

3

1 reference

1 August 2017

Jeffrey R Jasper

4

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1 August 2017

Fady I Malik

5

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1 August 2017

Michael W Lawlor

8

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1 August 2017

Coen A C Ottenheijm

10

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1 August 2017

Henk Granzier

11

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1 August 2017

language of work or name

English

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publication date

9 April 2013

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Journal of Medical Genetics

1 August 2017

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1 August 2017

50

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1 August 2017

383-392

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1 August 2017

6

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Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Lifting the nebula: novel insights into skeletal muscle contractility

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Nebulin regulates actin filament lengths by a stabilization mechanism.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Nebulin plays a direct role in promoting strong actin-myosin interactions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

A nebulin ruler does not dictate thin filament lengths

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Energy turnover for Ca2+ cycling in skeletal muscle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Interactions between nebulin-like motifs and thin filament regulatory proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Each actin subunit has three nebulin binding sites: implications for steric blocking

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Patterns of EMG activity of rat plantaris muscle during swimming and other locomotor activities.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865762

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

6 July 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101470

Vertical agarose gel electrophoresis and electroblotting of high-molecular-weight proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101470

Each Actin Subunit Has Three Nebulin Binding Sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101470

Levosimendan enhances force generation of diaphragm muscle from patients with chronic obstructive pulmonary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101470

Safety, tolerability and pharmacodynamics of a skeletal muscle activator in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101470

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23572184

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Length-dependent activation in three striated muscle types of the rat

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23572184

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The calcium sensitizer levosimendan improves human diaphragm function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23572184

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2012-101470

1 reference

1 August 2017

1 reference

1 August 2017

1 reference