Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant
P. R. Tomlinson, R. Knox, O. Perisic, H. Su, G. V. Brierley, R. L. Williams, R. K. Semple
The paper investigates an activating PIK3R1 variant linked to immunodeficiency and finds it acts as a dominant negative, reducing p110 signaling and explaining overlapping phenotypes.
bioRxiv · Nov 2, 2023Biochemistry