Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ewa Stepniak-Konieczna"'
Autor:
Chikara Dohno, Daria Niewiadomska, Anna Baud, Katarzyna Taylor, Krzysztof Sobczak, Patryk Konieczny, Agnieszka Walczak, Ewa Stepniak-Konieczna, Sanjukta Mukherjee, Agnieszka Piasecka, Kazuhiko Nakatani
Publikováno v:
Nucleic Acids Research
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a limited expansion of CGG repeats in the FMR1 gene. Degeneration of neurons in FXTAS cell models can be triggered by accumulation of polyglycine
Publikováno v:
Nucleic Acids Research
Expansion of an unstable CTG repeat in the 3′UTR of the DMPK gene causes Myotonic Dystrophy type 1 (DM1). CUG-expanded DMPK transcripts (CUGexp) sequester Muscleblind-like (MBNL) alternative splicing regulators in ribonuclear inclusions (foci), lea
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
Publikováno v:
RNA Biology
Muscleblind-like (MBNL) proteins bind to hundreds of pre- and mature mRNAs to regulate their alternative splicing, alternative polyadenylation, stability and subcellular localization. Once MBNLs are withheld from transcript regulation, cellular machi
Publikováno v:
Nucleic Acids Research
Muscleblind-like (MBNL) proteins are key regulators of precursor and mature mRNA metabolism in mammals. Based on published and novel data, we explore models of tissue-specific MBNL interaction with RNA. We portray MBNL domains critical for RNA bindin
Publikováno v:
Modified Nucleic Acids in Biology and Medicine ISBN: 9783319341736
RNA Technologies
RNA Technologies
Neuromuscular diseases (NMDs) affect the musculature due to pathologies in muscles or nerves that manage their function. Potential therapeutics based on antisense oligonucleotides (AONs), i.e., short, single-stranded nucleic acids or their analogs co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7ed14eca48dd61a4c958d7296b5234f
https://doi.org/10.1007/978-3-319-34175-0_11
https://doi.org/10.1007/978-3-319-34175-0_11
Autor:
Ewa Stepniak-Konieczna, Gregory T. Carter, Darren R. Bisset, Joel R. Chamberlain, Maja Zavaljevski, Jessica Wei, Michael D. Weiss
RNA interference (RNAi) offers a promising therapeutic approach for dominant genetic disorders that involve gain-of-function mechanisms. One candidate disease for RNAi therapy application is myotonic dystrophy type 1 (DM1), which results from toxicit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7e69efd97e7b548b67a2efd0bd36d26
https://europepmc.org/articles/PMC4527493/
https://europepmc.org/articles/PMC4527493/
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:
Krzysztof Sobczak, Matthew D. Disney, Christopher P. Austin, George C. Schatz, Samarjit Patnaik, Noel Southall, Tuan Tran, Charles A. Thornton, Ilyas Yildirim, HaJeung Park, Juan J. Marugan, Catherine Z. Chen, Jessica L. Childs-Disney, Jason W. Hoskins, Wei Zheng, Ewa Stepniak-Konieczna
Publikováno v:
Nature communications
The ability to control pre-mRNA splicing with small molecules could facilitate the development of therapeutics or cell-based circuits that control gene function. Myotonic dystrophy type 1 is caused by the dysregulation of alternative pre-mRNA splicin