(Q36904903)

17 August 2017

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy (English)

1 reference

17 August 2017

1 reference

10

Ger J M Stienen

1 reference

17 August 2017

Alan H Beggs

11

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author name string

Coen A C Ottenheijm

1

1 reference

17 August 2017

Danielle Buck

2

1 reference

17 August 2017

Josine M de Winter

3

1 reference

17 August 2017

Claudia Ferrara

4

1 reference

17 August 2017

Nicoletta Piroddi

5

1 reference

17 August 2017

Chiara Tesi

6

1 reference

17 August 2017

Jeffrey R Jasper

7

1 reference

17 August 2017

Fady I Malik

8

1 reference

17 August 2017

Hui Meng

9

1 reference

17 August 2017

Siegfried Labeit

12

1 reference

17 August 2017

Corrado Poggesi

13

1 reference

17 August 2017

Michael W Lawlor

14

1 reference

17 August 2017

Henk Granzier

15

1 reference

17 August 2017

language of work or name

English

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publication date

28 May 2013

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17 August 2017

14

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inferred from page(s)

published in

Brain

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17 August 2017

136

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17 August 2017

Pt 6

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17 August 2017

1718-1731

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describes a project that uses

17 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3673460/fullTextXML

inferred from PubMed Central ID database lookup

cites work

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Lifting the nebula: novel insights into skeletal muscle contractility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Nebulin regulates actin filament lengths by a stabilization mechanism.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Differential splicing of the large sarcomeric protein nebulin during skeletal muscle development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Altered contractility of skeletal muscle in mice deficient in titin's M-band region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

A nebulin ruler does not dictate thin filament lengths

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Thin filament length regulation in striated muscle sarcomeres: pointed-end dynamics go beyond a nebulin ruler

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

CARMA: A platform for analyzing microarray datasets that incorporate replicate measures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Sarcomeric determinants of striated muscle relaxation kinetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Nebulin: the nebulous, multifunctional giant of striated muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Interactions between nebulin-like motifs and thin filament regulatory proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Relaxation kinetics following sudden Ca(2+) reduction in single myofibrils from skeletal muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

The complete primary structure of human nebulin and its correlation to muscle structure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Interplay between passive tension and strong and weak binding cross-bridges in insect indirect flight muscle. A functional dissection by gelsolin-mediated thin filament removal

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Nemaline myopathy rod bodies. Structure and composition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Rate of force generation in muscle: correlation with actomyosin ATPase activity in solution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Evidence that nebulin is a protein-ruler in muscle thin filaments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Effect of thin filament length on the force-sarcomere length relation of skeletal muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

The three-dimensional structure of the nemaline rod Z-band

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Cloning, expression, and protein interaction of human nebulin fragments composed of varying numbers of sequence modules

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

The complete mouse nebulin gene sequence and the identification of cardiac nebulin.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Relationship between muscle fiber types and sizes and muscle architectural properties in the mouse hindlimb

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

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

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Magnetic resonance imaging of muscle in nemaline myopathy

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3673460

Myofibrillar ATPase activity in skinned human skeletal muscle fibres: fibre type and temperature dependence

4 December 2018

1 reference

12 December 2020

Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms

1 reference

12 December 2020

Nemaline (Z Disk) Myopathy: Observations on the Origin, Structure, and Solubility Properties of the Nemaline Structures*†

1 reference

12 December 2020

Actin filaments form the backbone of nemaline myopathy rods

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWT113

1 reference

17 August 2017

1 reference

17 August 2017

1 reference