(Q30090215)

19 October 2017

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy (English)

1 reference

19 October 2017

1 reference

Leiomodin 2

1 reference

Leiomodin 3

1 reference

Tropomodulin 4

1 reference

Leiomodin 3 (fetal)

1 reference

1 reference

Catherine A. Brownstein

27

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19 October 2017

47

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19 October 2017

51

1 reference

19 October 2017

56

1 reference

19 October 2017

Flora Nolent

14

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Michaela Yuen

Michaela Yuen

1

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Vilma-Lotta Lehtokari

Vilma-Lotta Lehtokari

7

0 references

Peter Houweling

Peter J Houweling

24

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Katarina Pelin

Katarina Pelin

46

0 references

Kate G Quinlan

Kate G Quinlan

6

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Nigel G Laing

Nigel G Laing

50

0 references

Enrico Bertini

Enrico Bertini

39

0 references

Velia Fowler

Velia M Fowler

54

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Mark Joseph Daly

22

Mark J Daly

1 reference

19 October 2017

20

Stacey B Gabriel

1 reference

19 October 2017

55

Daniel G MacArthur

1 reference

19 October 2017

13

Monkol Lek

1 reference

19 October 2017

21

Namrata Gupta

1 reference

19 October 2017

57

Nigel F Clarke

1 reference

19 October 2017

53

Judith Melki

1 reference

19 October 2017

Sarah A Sandaradura

2

1 reference

19 October 2017

James J Dowling

3

1 reference

19 October 2017

Alla S Kostyukova

4

1 reference

19 October 2017

Natalia Moroz

5

1 reference

19 October 2017

Gianina Ravenscroft

8

1 reference

19 October 2017

Emily J Todd

9

1 reference

19 October 2017

Ozge Ceyhan-Birsoy

10

1 reference

19 October 2017

David S Gokhin

11

1 reference

19 October 2017

Jérome Maluenda

12

1 reference

19 October 2017

Christopher T Pappas

15

1 reference

19 October 2017

Stefanie M Novak

16

1 reference

19 October 2017

Edoardo Malfatti

18

1 reference

19 October 2017

Brett P Thomas

19

1 reference

19 October 2017

Biljana Ilkovski

23

1 reference

19 October 2017

Ann E Davidson

25

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19 October 2017

Lindsay C Swanson

26

1 reference

19 October 2017

Vandana A Gupta

28

1 reference

19 October 2017

Livija Medne

29

1 reference

19 October 2017

Patrick Shannon

30

1 reference

19 October 2017

Nicole Martin

31

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19 October 2017

David P Bick

32

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19 October 2017

Anders Flisberg

33

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19 October 2017

Eva Holmberg

34

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19 October 2017

Peter Van den Bergh

35

1 reference

19 October 2017

Pablo Lapunzina

36

1 reference

19 October 2017

Leigh B Waddell

37

1 reference

19 October 2017

Darcée D Sloboda

38

1 reference

19 October 2017

David Chitayat

40

1 reference

19 October 2017

William R Telfer

41

1 reference

19 October 2017

Carol C Gregorio

43

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19 October 2017

Coen A C Ottenheijm

44

1 reference

19 October 2017

Carsten G Bönnemann

45

1 reference

19 October 2017

Yukiko K Hayashi

48

1 reference

19 October 2017

Norma B Romero

49

1 reference

19 October 2017

Carina Wallgren-Pettersson

52

1 reference

19 October 2017

language of work or name

English

0 references

publication date

24 September 2014

1 reference

Journal of Clinical Investigation

19 October 2017

1 reference

19 October 2017

124

1 reference

19 October 2017

4693-4708

1 reference

19 October 2017

11

1 reference

describes a project that uses

19 October 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4347224/fullTextXML

inferred from PubMed Central ID database lookup

cites work

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Recent advances in nemaline myopathy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Force measurement during contraction to assess muscle function in zebrafish larvae.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Leiomodin 1, a new serum response factor-dependent target gene expressed preferentially in differentiated smooth muscle cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Thin-filament length correlates with fiber type in human skeletal muscle

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Leiomodin-2 is an antagonist of tropomodulin-1 at the pointed end of the thin filaments in cardiac muscle

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Different localizations and cellular behaviors of leiomodin and tropomodulin in mature cardiomyocyte sarcomeres

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Tropomodulin isoforms regulate thin filament pointed-end capping and skeletal muscle physiology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Zebrafish models of collagen VI-related myopathies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

A nebulin ruler does not dictate thin filament lengths

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Leiomodin is an actin filament nucleator in muscle cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Molecular basis of tropomyosin binding to tropomodulin, an actin-capping protein

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Nemaline myopathy caused by absence of alpha-skeletal muscle actin

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Structure and interactions of the carboxyl terminus of striated muscle alpha-tropomyosin: it is important to be flexible

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Measurement of thin filament lengths by distributed deconvolution analysis of fluorescence images

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

InterProScan--an integration platform for the signature-recognition methods in InterPro

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Nemaline myopathy: a clinical study of 143 cases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

The structure of the N-terminus of striated muscle alpha-tropomyosin in a chimeric peptide: nuclear magnetic resonance structure and circular dichroism studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

High efficiency myogenic conversion of human fibroblasts by adenoviral vector-mediated MyoD gene transfer. An alternative strategy for ex vivo gene therapy of primary myopathies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Effect of the structure of the N terminus of tropomyosin on tropomodulin function

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

Leiomodins: larger members of the tropomodulin (Tmod) gene family.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347224

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

26 November 2018

1 reference

12 December 2020

Fluorimetry study of N-(1-pyrenyl)iodoacetamide-labelled F-actin. Local structural change of actin protomer both on polymerization and on binding of heavy meromyosin

1 reference

12 December 2020

Pyrene actin: documentation of the validity of a sensitive assay for actin polymerization

1 reference

12 December 2020

Leiomodin/tropomyosin interactions are isoform specific

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI75199

1 reference

19 October 2017

1 reference

19 October 2017

1 reference