Identification of novel disease relevant genetic modifiers affecting the SHH pathway in the developing brain
Nora Mecklenburg, Izabela Kowalczyk, Franziska Witte, Jessica Görne, Alena Laier, Hannes Gonschior, Martin Lehmann, Matthias Richter, Anje Sporbert, Bettina Purfürst, Norbert Hübner, Annette Hammes
The paper identifies Pttg1 and Ulk4 as genetic modifiers that enhance SHH pathway resilience and are involved in primary cilia formation in the neuroepithelium.
bioRxiv · Nov 3, 2020 · PreprintDevelopmental Biology