Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F12%3A%230001859" target="_blank" >RIV/65269705:_____/12:#0001859 - isvavai.cz</a>

Alternative codes found

RIV/68081707:_____/12:00380080 RIV/00216224:14740/12:00060646

Result on the web

<a href="http://dx.doi.org/10.1016/j.nmd.2012.03.004" target="_blank" >http://dx.doi.org/10.1016/j.nmd.2012.03.004</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.nmd.2012.03.004" target="_blank" >10.1016/j.nmd.2012.03.004</a>

Result language

angličtina

Original language name

Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2

Original language description

The pathogenesis of myotonic dystrophy type 2 includes the sequestration of MBNL proteins by expanded CCUG transcripts, which leads to an abnormal splicing of their target pre-mRNAs. We have found CCUGexp RNA transcripts of the ZNF9 gene associated withthe formation of ribonuclear foci in human skeletal muscle and some non-muscle tissues present in muscle biopsies and skin excisions from myotonic dystrophy type 2 patients. Using RNA-FISH and immunofluorescence-FISH methods in combination with a high-resolution confocal microscopy, we demonstrate a different frequency of nuclei containing the CCUGexp foci, a different expression pattern of MBNL1 protein and a different sequestration of MBNL1 by CCUGexp repeats in skeletal muscle, vascular smooth muscleand endothelia, Schwann cells, adipocytes, and ectodermal derivatives. The level of CCUGexp transcription in epidermal and hair sheath cells is lower compared with that in other tissues examined. We suppose that non-muscle tissues of myo

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2012

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neuromuscular Disorders

ISSN

0960-8966

e-ISSN

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Volume of the periodical

22

Issue of the periodical within the volume

7

Country of publishing house

US - UNITED STATES

Number of pages

13

Pages from-to

604-6016

UT code for WoS article

000306539100005

EID of the result in the Scopus database

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