Search Results - "Rogalska, Malgorzata Ewa"

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  1. 1

    Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA by Dal Mas, Andrea, Rogalska, Malgorzata Ewa, Bussani, Erica, Pagani, Franco

    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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    Journal Article
  2. 2

    Therapeutic activity of modified U1 core spliceosomal particles by Rogalska, Malgorzata Ewa, Tajnik, Mojca, Licastro, Danilo, Bussani, Erica, Camparini, Luca, Mattioli, Chiara, Pagani, Franco

    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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    Journal Article
  3. 3

    Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function by Tajnik, Mojca, Rogalska, Malgorzata Ewa, Bussani, Erica, Barbon, Elena, Balestra, Dario, Pinotti, Mirko, Pagani, Franco

    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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  4. 4
  5. 5

    IQGAP1 mediates the communication between the nucleus and the mitochondria via NDUFS4 alternative splicing by Papadaki, Vasiliki, Erpapazoglou, Zoi, Kokkori, Maria, Rogalska, Malgorzata Ewa, Potiri, Myrto, Birladeanu, Andrada, Tsakiri, Eleni N, Ashktorab, Hassan, Smoot, Duane T, Papanikolopoulou, Katerina, Samiotaki, Martina, Kafasla, Panagiota

    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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  6. 6

    An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants by Balestra, Dario, Scalet, Daniela, Pagani, Franco, Rogalska, Malgorzata Ewa, Mari, Rosella, Bernardi, Francesco, Pinotti, Mirko

    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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    Journal Article
  7. 7

    Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects by Rogalska, Malgorzata Ewa, Vivori, Claudia, Valcárcel, Juan

    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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  8. 8

    Rescue of common exon‐skipping mutations in cystic fibrosis with modified U1 snRNAs by Donegà, Stefano, Rogalska, Malgorzata Ewa, Pianigiani, Giulia, Igreja, Susana, Amaral, Margarida Duarte, Pagani, Franco

    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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