Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact of most variants is unknown as they occur within intrinsically disordered protein regions that have poorly defined functions(1–3). Intrinsically disordered regions can mediate phase sepa...

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Detalles Bibliográficos
Autores principales: Mensah, Martin A., Niskanen, Henri, Magalhaes, Alexandre P., Basu, Shaon, Kircher, Martin, Sczakiel, Henrike L., Reiter, Alisa M. V., Elsner, Jonas, Meinecke, Peter, Biskup, Saskia, Chung, Brian H. Y., Dombrowsky, Gregor, Eckmann-Scholz, Christel, Hitz, Marc Phillip, Hoischen, Alexander, Holterhus, Paul-Martin, Hülsemann, Wiebke, Kahrizi, Kimia, Kalscheuer, Vera M., Kan, Anita, Krumbiegel, Mandy, Kurth, Ingo, Leubner, Jonas, Longardt, Ann Carolin, Moritz, Jörg D., Najmabadi, Hossein, Skipalova, Karolina, Snijders Blok, Lot, Tzschach, Andreas, Wiedersberg, Eberhard, Zenker, Martin, Garcia-Cabau, Carla, Buschow, René, Salvatella, Xavier, Kraushar, Matthew L., Mundlos, Stefan, Caliebe, Almuth, Spielmann, Malte, Horn, Denise, Hnisz, Denes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9931588/
https://www.ncbi.nlm.nih.gov/pubmed/36755093
http://dx.doi.org/10.1038/s41586-022-05682-1

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