(Q47929916)

English

Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes

scientific article published in June 2014

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

alternative mRNA splicing, via spliceosome

1 reference

based on heuristic

inferred from title

myotonic dystrophy

1 reference

based on heuristic

inferred from title

Massimo Santoro

1

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

Roberto Piacentini

2

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

Maria Vittoria Podda

6

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

9

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

Marcella Masciullo

object named as

Marcella Masciullo

3

0 references

Gabriella Silvestri

object named as

Gabriella Silvestri

8

0 references

object named as

Enzo Ricci

7

0 references

author name string

Maria Laura Ester Bianchi

4

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

Anna Modoni

5

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

publication date

1 June 2014

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

Neuropathology and Applied Neurobiology

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

40

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

4

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

464-476

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Genetics and molecular pathogenesis of the myotonic dystrophies

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Myotonic dystrophy: emerging mechanisms for DM1 and DM2.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Muscleblind proteins regulate alternative splicing

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

RNA and disease

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Pathogenic mechanisms of myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Specific tau variants in the brains of patients with myotonic dystrophy.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

The role of Ca2+ ions in excitation-contraction coupling of skeletal muscle fibres

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Conformational activation of Ca2+ entry by depolarization of skeletal myotubes

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

The skeletal L-type Ca(2+) current is a major contributor to excitation-coupled Ca(2+) entry

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Coupling endoplasmic reticulum stress to the cell death program. Mechanism of caspase activation

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

A muscleblind knockout model for myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

A new L-type calcium channel isoform required for normal patterning of the developing neuromuscular junction.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

A CaV1.1 Ca2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Interaction between the dihydropyridine receptor Ca2+ channel beta-subunit and ryanodine receptor type 1 strengthens excitation-contraction coupling

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling.

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Effects of conformational peptide probe DP4 on bidirectional signaling between DHPR and RyR1 calcium channels in voltage-clamped skeletal muscle fibers

1 reference

https://api.crossref.org/works/10.1111%2FNAN.12076

21 January 2018

Identifiers

10.1111/NAN.12076

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/23888875

ResearchGate publication ID

0 references

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