Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lukasz J. Sznajder"'
Autor:
Krzysztof Sobczak, Katarzyna Taylor, Lukasz J. Sznajder, Ewa Stepniak-Konieczna, Patryk Konieczny
Publikováno v:
Nucleic Acids Research
Muscleblind-like proteins (MBNLs) are regulators of RNA metabolism. During tissue differentiation the level of MBNLs increases, while their functional insufficiency plays a crucial role in myotonic dystrophy (DM). Deep sequencing of RNA molecules cro
Autor:
Piotr Cywoniuk, Maurice S. Swanson, James D. Thomas, Katarzyna Taylor, Krzysztof Sobczak, Lukasz J Sznajder
Publikováno v:
Nucleic Acids Research
Muscleblind-like (MBNL) proteins are conserved RNA-binding factors involved in alternative splicing (AS) regulation during development. While AS is controlled by distribution of MBNL paralogs and isoforms, the affinity of these proteins for specific
Autor:
Agnieszka Mykowska, Charles A. Thornton, Krzysztof Sobczak, Katarzyna Taylor, Joanna Sroka, Lukasz J. Sznajder, Agnieszka Wojtkowiak-Szlachcic, Ewa Stepniak-Konieczna
Publikováno v:
Nucleic Acids Research
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder caused by expansion of CTG triplet repeats in 3'-untranslated region of DMPK gene. The pathomechanism of DM1 is driven by accumulation of toxic transcripts containing exp
Autor:
Marta Olejniczak, Wlodzimierz J. Krzyzosiak, Edyta Koscianska, Julia Starega-Roslan, Lukasz J Sznajder, Paulina Galka-Marciniak
Publikováno v:
BMC Molecular Biology, Vol 12, Iss 1, p 14 (2011)
BMC Molecular Biology
BMC Molecular Biology
Background Numerous microRNAs (miRNAs) have heterogeneous ends resulting from imprecise cleavages by processing nucleases and from various non-templated nucleotide additions. The scale of miRNA end-heterogeneity is best shown by deep sequencing data
Autor:
Łukasz J. Sznajder, Marina M. Scotti, Jihae Shin, Katarzyna Taylor, Franjo Ivankovic, Curtis A. Nutter, Faaiq N. Aslam, S. H. Subramony, Laura P. W. Ranum, Maurice S. Swanson
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
The activity of the RNA splicing factor MBNL1 is altered in myotonic dystrophy (DM) patients. Here the authors characterize the thymic phenotype of Mbnl1 knockout mice, including developmental defects, transcriptome changes, and RNA mis-splicing of t
Externí odkaz:
https://doaj.org/article/d633908c2a2e467aa55689a91243f33f
Autor:
Łukasz J. Sznajder, Maurice S. Swanson
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 13, p 3365 (2019)
Short tandem repeat (STR) or microsatellite, expansions underlie more than 50 hereditary neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 (DM1) and 2 (DM2). Current disease models for DM1 and DM2 propose a common p
Externí odkaz:
https://doaj.org/article/76fa28fb67cb48f68f4ad930ace97a5b