Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. (Q39533985)

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2 February 2020

title

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy (English)

1 reference

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alternative mRNA splicing, via spliceosome

2 February 2020

main subject

1 reference

1 reference

Stéphane Vassilopoulos

4

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2 February 2020

Benedikt Schoser

28

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2 February 2020

Ichizo Nishino

30

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2 February 2020

Arnaud F Klein

2

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2 February 2020

Ylva Ivarsson

5

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2 February 2020

Doulaye Dembélé

14

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2 February 2020

Adolfo López de Munain

19

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2 February 2020

Nicolas Sergeant

20

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2 February 2020

Christelle Thibault

22

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Didier Auboeuf

24

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Denis Furling

33

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Nicolas Charlet

34

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2 February 2020

author name string

Charlotte Fugier

1

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2 February 2020

Caroline Hammer

3

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2 February 2020

Anne Toussaint

6

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2 February 2020

Valérie Tosch

7

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2 February 2020

Alban Vignaud

8

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Arnaud Ferry

9

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Nadia Messaddeq

10

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Yosuke Kokunai

11

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Rie Tsuburaya

12

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Pierre de la Grange

13

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Virginie Francois

15

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Guillaume Precigout

16

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2 February 2020

Charlotte Boulade-Ladame

17

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Marie-Christine Hummel

18

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Annie Laquerrière

21

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François Deryckere

23

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Luis Garcia

25

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Pascale Zimmermann

26

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Bjarne Udd

27

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Masanori P Takahashi

29

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Guillaume Bassez

31

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Jocelyn Laporte

32

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language of work or name

English

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publication date

29 May 2011

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2 February 2020

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2 February 2020

volume

17

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issue

6

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page(s)

720-725

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https://scigraph.springernature.com/pub.10.1038/nm.2374

2 February 2020

exact match

0 references

cites work

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

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

21 January 2018

1 reference

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.

21 January 2018

1 reference

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

21 January 2018

1 reference

A muscleblind knockout model for myotonic dystrophy

21 January 2018

1 reference

Muscleblind proteins regulate alternative splicing

21 January 2018

1 reference

Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Centronuclear (myotubular) myopathy

21 January 2018

1 reference

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

21 January 2018

1 reference

Mutations in dynamin 2 cause dominant centronuclear myopathy

21 January 2018

1 reference

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

21 January 2018

1 reference

Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle

21 January 2018

1 reference

BAR domains as sensors of membrane curvature: the amphiphysin BAR structure

21 January 2018

1 reference

Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila

21 January 2018

1 reference

MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1

21 January 2018

1 reference

Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.

21 January 2018

1 reference

Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs

21 January 2018

1 reference

MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1

21 January 2018

1 reference

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

21 January 2018

1 reference

Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy

21 January 2018

1 reference

Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1

21 January 2018

1 reference

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

21 January 2018

1 reference

Targeted disruption of the murine Bin1/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation.

21 January 2018

1 reference

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Biogenesis of transverse tubules: immunocytochemical localization of a transverse tubular protein (TS28) and a sarcolemmal protein (SL50) in rabbit skeletal muscle developing in situ

21 January 2018

1 reference

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

21 January 2018

1 reference

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

21 January 2018

1 reference

RYR1 mutations are a common cause of congenital myopathies with central nuclei

21 January 2018

1 reference

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

21 January 2018

1 reference

12 December 2020

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

1 reference

12 December 2020

Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells

1 reference

12 December 2020

Decreased expression of myotonic dystrophy protein kinase and disorganization of sarcoplasmic reticulum in skeletal muscle of myotonic dystrophy

1 reference

12 December 2020

Outcome of acetylcholinesterase deficiency for neuromuscular functioning

1 reference

12 December 2020