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@article{989755,
author = {Lukáš, Zdeněk and Falk, Martin and Feit, Josef and Souček, Ondřej and Falková, Iva and Štefančíková, Lenka and Janoušová, Eva and Fajkusová, Lenka and Zaorálková, Jana and Hrabálková, Renata},
article_location = {London},
article_number = {7},
doi = {http://dx.doi.org/10.1016/j.nmd.2012.03.004},
keywords = {Myotonic dystrophy; Transcription of ZNF9; CCUG repeat expansion; Sequestration of MBNL1 protein; Ribonuclear foci; Insulin receptor alternative splicing},
language = {eng},
issn = {0960-8966},
journal = {Neuromuscular Disorders},
title = {Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2},
url = {http://www.sciencedirect.com/science/article/pii/S096089661200082X},
volume = {22},
year = {2012}
}
TY - JOUR
ID - 989755
AU - Lukáš, Zdeněk - Falk, Martin - Feit, Josef - Souček, Ondřej - Falková, Iva - Štefančíková, Lenka - Janoušová, Eva - Fajkusová, Lenka - Zaorálková, Jana - Hrabálková, Renata
PY - 2012
TI - Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2
JF - Neuromuscular Disorders
VL - 22
IS - 7
SP - 604-616
EP - 604-616
PB - Elsevier
SN - 09608966
KW - Myotonic dystrophy
KW - Transcription of ZNF9
KW - CCUG repeat expansion
KW - Sequestration of MBNL1 protein
KW - Ribonuclear foci
KW - Insulin receptor alternative splicing
UR - http://www.sciencedirect.com/science/article/pii/S096089661200082X
L2 - http://www.sciencedirect.com/science/article/pii/S096089661200082X
N2 - 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 CCUG(exp) RNA transcripts of the ZNF9 gene associated with the 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 CCUG(exp) foci, a different expression pattern of MBNL1 protein and a different sequestration of MBNL1 by CCUG(exp) repeats in skeletal muscle, vascular smooth muscle and endothelia, Schwann cells, adipocytes, and ectodermal derivatives. The level of CCUG(exp) transcription in epidermal and hair sheath cells is lower compared with that in other tissues examined. We suppose that non-muscle tissues of myotonic dystrophy type 2 patients might be affected by a similar molecular mechanism as the skeletal muscle, as suggested by our observation of an aberrant insulin receptor splicing in myotonic dystrophy type 2 adipocytes.
ER -
LUKÁŠ, Zdeněk, Martin FALK, Josef FEIT, Ondřej SOUČEK, Iva FALKOVÁ, Lenka ŠTEFANČÍKOVÁ, Eva JANOUŠOVÁ, Lenka FAJKUSOVÁ, Jana ZAORÁLKOVÁ and Renata HRABÁLKOVÁ. Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2. \textit{Neuromuscular Disorders}. London: Elsevier, 2012, vol.~22, No~7, p.~604-616. ISSN~0960-8966. Available from: https://dx.doi.org/10.1016/j.nmd.2012.03.004.
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