BiochemistrybioRxiv
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant
P. R. Tomlinson, R. Knox, O. Perisic…·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.
DOI 10.7554/elife.94420