Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy (Q24337657)

Muscleblind like splicing factor 1

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

Xiaoyan Lin

1

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Jill W Miller

2

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Ami Mankodi

3

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Rahul N Kanadia

4

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Yuan Yuan

5

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Richard T Moxley

6

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Maurice S Swanson

7

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Charles A Thornton

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

8

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language of work or name

English

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publication date

1 July 2006

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published in

Human Molecular Genetics

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volume

15

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issue

13

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page(s)

2087-97

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

The CUG-binding protein binds specifically to UG dinucleotide repeats in a yeast three-hybrid system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Muscleblind proteins regulate alternative splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

A muscleblind knockout model for myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Isolation of skeletal muscle nuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Ultraconserved Elements in the Human Genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Changes in the sarcoplasmic reticulum and transverse tubular system of fast and slow skeletal muscles of the mouse during postnatal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

ASF/SF2-regulated CaMKIIdelta alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

7 January 2021

Postnatal maturation of nerve-muscle junctions in hindlimb muscles of the mouse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

7 January 2021

CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

7 January 2021

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL132

7 January 2021