Sequestration of MBNL1 Protein by Mutant ZNF9 mRNA in Lymphocytes of Patients with Myotonic Dystrophy Type 2
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68081707%3A_____%2F12%3A00390265" target="_blank" >RIV/68081707:_____/12:00390265 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/12:00081816
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Sequestration of MBNL1 Protein by Mutant ZNF9 mRNA in Lymphocytes of Patients with Myotonic Dystrophy Type 2
Original language description
Myotonic dystrophy type 2 (DM2) results from the (CCTG)n expansion in the ZNF9 gene located on the long arm of chromosome 3. The pathogenesis of DM2 includes sequestration of muscleblind-like (MBNL) proteins by pathological CCUG(exp) ZNF9 mRNA transcripts, leading to abnormal splicing of target pre-mRNAs and, consequently, to the development of the pathological phenotype. In this report, we demonstrate expression of the ZNF9 transcript, ZNF9 protein as well as MBNL1 protein in lymphocytes of non-DM controls and DM2 patients. In DM2 patients lymphocytes, MBNL1 protein is co-localized and partly sequestered in CCUG(exp) ZNF9 mRNA intranuclear foci.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
BO - Biophysics
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Česká a Slovenská neurologie a neurochirurgie
ISSN
1210-7859
e-ISSN
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Volume of the periodical
75
Issue of the periodical within the volume
5
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
4
Pages from-to
606-609
UT code for WoS article
000309087800011
EID of the result in the Scopus database
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