English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/212317
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE
Exportar a otros formatos:

Title

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

AuthorsMavillard, Fabiola; Madruga, Marcos; Rivas Infante, Eloy; Servián Morilla, E. ; Ávila Polo, Rainiero; Marcos Luque, Irene; Morón, Francisco J.; Paradas, Carmen; Cabrera-Serrano, Macarena
Issue Date2019
PublisherAmerican Neurological Association
John Wiley & Sons
CitationAnnals of Clinical and Translational Neurology 6(11): 2328-2333 (2019)
AbstractCAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17 splicing out exon 17, with mRNA levels severely reduced or undetectable. The mutation induces a strong change in the 3D structure of the mRNA which supports no-go mRNA decay as the probable mechanism for RNA degradation. The mutation was identified in two unrelated Roma individuals showing a common ancestral origin and founder effect. This is the first Roma CAPN3 mutation to be reported.
Publisher version (URL)https://doi.org/10.1002/acn3.50910
URIhttp://hdl.handle.net/10261/212317
DOIhttp://dx.doi.org/10.1002/acn3.50910
Identifiersdoi: 10.1002/acn3.50910
e-issn: 2328-9503
Appears in Collections:(IBIS) Artículos
Files in This Item:
File Description SizeFormat 
novelcapn3.pdf856,4 kBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.