Search Results - "Rogalska, Malgorzata Ewa"
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Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA
Published in American journal of human genetics (08-01-2015)“…Exon-specific U1 snRNAs (ExSpe U1s) are modified U1 snRNAs that interact with intronic sequences downstream of the 5′ splice site (ss) by complementarity. This…”
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Therapeutic activity of modified U1 core spliceosomal particles
Published in Nature communications (04-04-2016)“…Modified U1 snRNAs bound to intronic sequences downstream of the 5′ splice site correct exon skipping caused by different types of mutations. Here we evaluate…”
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Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
Published in PLoS genetics (26-05-2016)“…Mutations that result in amino acid changes can affect both pre-mRNA splicing and protein function. Understanding the combined effect is essential for correct…”
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Evolutionary analysis reveals the role of a non-catalytic domain of peptidyl arginine deiminase 2 in transcriptional regulation
Published in iScience (19-04-2024)“…Peptidyl arginine deiminases (PADIs) catalyze protein citrullination, a post-translational conversion of arginine to citrulline. The most widely expressed…”
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IQGAP1 mediates the communication between the nucleus and the mitochondria via NDUFS4 alternative splicing
Published in NAR cancer (01-09-2023)“…Abstract Constant communication between mitochondria and nucleus ensures cellular homeostasis and adaptation to mitochondrial stress. Anterograde regulatory…”
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An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants
Published in Molecular therapy. Nucleic acids (04-10-2016)“…In cellular models we have demonstrated that a unique U1snRNA targeting an intronic region downstream of a defective exon (Exon-specific U1snRNA, ExSpeU1) can…”
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Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects
Published in Nature reviews. Genetics (01-04-2023)“…The removal of introns from mRNA precursors and its regulation by alternative splicing are key for eukaryotic gene expression and cellular function, as…”
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Rescue of common exon‐skipping mutations in cystic fibrosis with modified U1 snRNAs
Published in Human mutation (01-12-2020)“…In cystic fibrosis (CF), the correction of splicing defects represents an interesting therapeutic approach to restore normal CFTR function. In this study, we…”
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Proteomic study identifies Aurora-A mediated regulation of alternative splicing through multiple splicing factors
Published in The Journal of biological chemistry (01-11-2024)“…The cell cycle regulator Aurora-A kinase presents an attractive target for cancer therapies, though its inhibition is also associated with toxic side effects…”
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