Researcher:
Nashabat, Marwan

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Master Student

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Marwan

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Nashabat

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Nashabat, Marwan

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Now showing 1 - 3 of 3
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    Publication
    SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
    (Nature Portfolio, 2024) Beillard, Emmanuel; Kayhan, Cavit Kerem; Bosco, Luca; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M.; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, Leshon; Castro-Rojas, Derly Liseth; Bueltmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Gonzalez, Joanna Michelle; Pini, Antonella; Schadlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Streata, Ioana; Glaeser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou, Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Boennemann, Carsten G.; Stettner, Georg M.; Zanni, Ginevra; Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; Börklü Yücel, Esra; Yılmaz, Elanur; Uygur, Seyide Ecesu; Eren, Zeynep Bengi; Kayserili, Hülya; Beillard, Nathalie Sonia Escande; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); Graduate School of Sciences and Engineering; Graduate School of Health Sciences; School of Medicine; Koç University Hospital
    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 neurological defects. Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease. We demonstrate that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients' primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines. Additionally, mutant nuclei exhibit defective spliceosomal maturation and breakdown of Cajal bodies. Transcriptome analyses reveal splicing and mRNA expression dysregulation, particularly in sarcolemmal components, causing disruption of cytoskeletal organization in mutant cells and patient muscle tissues. Our findings establish SNUPN deficiency as the genetic etiology of a previously unrecognized subtype of muscular dystrophy and provide robust evidence of the role of SPN1 for muscle homeostasis.
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    Publication
    Unravelling a novel congenital muscular dystrophy
    (Springernature, 2023) Donkervoort, Sandra; Von Hardenberg, Sandra; Zanni, Ginevra; Steindl, Katharina; Nashabat, Marwan; Saraçoğlu, Hilal Pırıl; Nabavizadeh, Nasrinsadat; Sarıbaş, Burak; Avcı, Şahin; Börklü Yücel, Esra; Oflazer, Piraye; Kayserili, Hülya; Beillard, Nathalie Sonia Escande; Graduate School of Sciences and Engineering; Graduate School of Health Sciences; School of Medicine; Koç University Hospital
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    Publication
    Expanding disease spectrum of muscular dystrophy
    (Springernature, 2022) N/A; N/A; Nashabat, Marwan; Avcı, Şahin; Börklü Yücel, Esra; Saraçoğlu, Hilal Pırıl; Oflazer, Piraye; Beillard, Nathalie Sonia Escande; Kayserili, Hülya; Master Student; Faculty Member; Other; PhD Student; Faculty Member; Researcher; Faculty Member; Graduate School of Health Sciences; School of Medicine; School of Medicine; Graduate School of Health Sciences; School of Medicine; School of Medicine; School of Medicine; N/A; N/A; N/A; N/A; N/A; N/A; 7945
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