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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and n...

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Main Authors: Nashabat, Marwan (Author) , Nabavizadeh, Nasrinsadat (Author) , Saraçoğlu, Hilal Pırıl (Author) , Sarıbaş, Burak (Author) , Avcı, Şahin (Author) , Börklü, Esra (Author) , Beillard, Emmanuel (Author) , Yılmaz, Elanur (Author) , Uygur, Seyide Ecesu (Author) , Kayhan, Cavit Kerem (Author) , Bosco, Luca (Author) , Eren, Zeynep Bengi (Author) , Steindl, Katharina (Author) , Richter, Manuela Friederike (Author) , Bademci, Guney (Author) , Rauch, Anita (Author) , Fattahi, Zohreh (Author) , Valentino, Maria Lucia (Author) , Connolly, Anne M. (Author) , Bahr, Angela (Author) , Viola, Laura (Author) , Bergmann, Anke Katharina (Author) , Rocha, Maria Eugenia (Author) , Peart, LeShon (Author) , Castro-Rojas, Derly Liseth (Author) , Bültmann, Eva (Author) , Khan, Suliman (Author) , Giarrana, Miriam Liliana (Author) , Teleanu, Raluca Ioana (Author) , Gonzalez, Joanna Michelle (Author) , Pini, Antonella (Author) , Schädlich, Ines Sophie (Author) , Vill, Katharina (Author) , Brugger, Melanie (Author) , Züchner, Stephan (Author) , Pinto, Andreia (Author) , Donkervoort, Sandra (Author) , Bivona, Stephanie Ann (Author) , Riza, Anca (Author) , Streata, Ioana (Author) , Gläser, Dieter (Author) , Baquero-Montoya, Carolina (Author) , Garcia-Restrepo, Natalia (Author) , Kotzaeridou, Urania (Author) , Brunet, Theresa (Author) , Epure, Diana Anamaria (Author) , Bertoli-Avella, Aida M. (Author) , Kariminejad, Ariana (Author) , Tekin, Mustafa (Author) , von Hardenberg, Sandra (Author) , Bönnemann, Carsten G. (Author) , Stettner, Georg Martin (Author) , Zanni, Ginevra (Author) , Kayserili, Hülya (Author) , Oflazer, Zehra Piraye (Author) , Escande-Beillard, Nathalie (Author)
Format: Article (Journal)
Language:English
Published: 27 February 2024
In: Nature Communications
Year: 2024, Volume: 15, Pages: 1-19
ISSN:2041-1723
DOI:10.1038/s41467-024-45933-5
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41467-024-45933-5
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41467-024-45933-5
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Author Notes:Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard

MARC

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