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

Autor: 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, Undiagnosed Diseases Network, 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

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)

Abstract 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

Externí odkaz: https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5

Focal Seizures and Posterior Reversible Encephalopathy Syndrome as Presenting Signs of IgA Vasculitis/Henoch-Schoenlein Purpura—An Educative Case and Systematic Review of the Literature

Autor: Dominik Funken, Friedrich Götz, Eva Bültmann, Imke Hennies, Janina Gburek-Augustat, Julya Hempel, Frank Dressler, Ulrich Baumann, Christian Klemann

Publikováno v: Frontiers in Neurology, Vol 12 (2021)

Background: IgA vasculitis/Henoch-Schoenlein purpura (IgAV/HSP) is a systemic small vessel vasculitis of unknown pathogenesis predominantly affecting children. While skin, GI tract, joints, and kidneys are frequently affected and considered, central

Externí odkaz: https://doaj.org/article/9eabf7b9e53249ee98b11aff64b12eb5

Fokale Krampfanfälle und Posteriores Reversibles Enzephalopathie-Syndrom (PRES) als Erstmanifestation einer IgA-Vaskulitis

Autor: Dominik Funken, Eva Bültmann, Janina Gburek-Augustat, Ulrich Baumann, Frank Dressler, Christian Klemann

Publikováno v: Arthritis und Rheuma. 42:258-266

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3973e6c74ad8168be861a2549fe6d24c
https://doi.org/10.1055/a-1896-8170

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in

Autor: Marta, Owczarek-Lipska, Fenja, Markus, Eva, Bültmann, G Christoph, Korenke, John, Neidhardt

Publikováno v: Genes. 13(11)

TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. The phenotypic spectrum of TARP shows high cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a99c14b059ee3940ede31b686a5bb1a3
https://pubmed.ncbi.nlm.nih.gov/36421828

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

Autor: Nina Bögershausen, Hannah E. Krawczyk, Rami A. Jamra, Sheng‐Jia Lin, Gökhan Yigit, Irina Hüning, Anna M. Polo, Barbara Vona, Kevin Huang, Julia Schmidt, Janine Altmüller, Johannes Luppe, Konrad Platzer, Beate B. Dörgeloh, Andreas Busche, Saskia Biskup, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Arne Zibat, Eva Bültmann, Peter Nürnberg, Malte Spielmann, Johannes R. Lemke, Yun Li, Martin Zenker, Gaurav K. Varshney, Hauke S. Hillen, Christian P. Kratz, Bernd Wollnik

Publikováno v: Human Mutations
Human mutation, 43(10), 1454-1471. Wiley-Liss Inc.
Human Mutation, 43(10), 1454-1471. Wiley-Liss Inc.
Bögershausen, N, Krawczyk, H E, Jamra, R A, Lin, S-J, Yigit, G K, Hüning, I, Polo, A M, Vona, B, Huang, K, Schmidt, J, Altmüller, J, Luppe, J, Platzer, K, Dörgeloh, B B, Busche, A, Biskup, S, Mendes, M I, Smith, D E C, Salomons, G S, Zibat, A, Bültmann, E, Nürnberg, P, Spielmann, M, Lemke, J R, Li, Y, Zenker, M, Varshney, G K, Hillen, H S, Kratz, C P & Wollnik, B 2022, ' WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly ', Human Mutation, vol. 43, no. 10, pp. 1454-1471 . https://doi.org/10.1002/humu.24430

Aminoacylation of tRNA is a key step in protein biosynthesis, carried out by highly specific aminoacyl-tRNA synthetases (ARS). ARS have been implicated in autosomal dominant and autosomal recessive human disorders. Autosomal dominant variants in tryp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85935df54049d5375dcb05087f17d26d
https://hdl.handle.net/21.11116/0000-000B-2BDE-C21.11116/0000-000B-2BE0-8