DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM
Danique Beijer, Hong Joo Kim, Lin E. Guo, K O’Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M. Fare, Lauren E. Drake, Alice Flynn Ford, Andrzej Kochański, Dagmara Kabzińska, Nicolas Dubuisson, Peter Y. K. Van den Bergh, Nicol Cornelia Voermans, , Jonathan Baets
The paper characterizes HNRNPA1 mutations in patients with neurodegenerative diseases, showing varied effects on fibrillization, phase separation, and stress granule dynamics.
JCI Insight · Jul 21, 2021Peer-reviewedGenetic & Genomic Medicine