PURA Syndrome-causing mutations impair PUR-domain integrity and affect P-body association
Marcel Proske, Robert Janowski, Sabrina Bacher, Hyun-Seo Kang, Thomas Monecke, Tony Köhler, Saskia Hutten, Jana Tretter, Anna Crois, Lena Molitor, Alejandro Varela‐Rial, Roberto Fino, Elisa Donati, Gianni De Fabritiis, Dorothee Dormann, , Dierk Niessing
This study shows that PURA syndrome mutations disrupt PURA's structure and P-body association, explaining full penetrance of the disease.
eLife · Jan 24, 2024Peer-reviewedMolecular Biology