NeurosciencebioRxivPreprint
A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS)
Brice Calco, Colin L. Sweeney, Joseph P. Steiner…·Farinaz Safavi
The paper identifies a novel PIK3R1 frameshift mutation linked to immunodeficiency and ALS, showing haploinsufficiency causes neuronal dysfunction and apoptosis.