Figure 1.

Missense mutations alter GALC secretion from cells. HEK293T cells were transiently transfected with FLAG‐tagged wild‐type (WT) GALC and a panel of clinically relevant Krabbe disease mutations. Conditioned media was harvested at 72 h and cells lysed in 1% SDS followed by SDS‐PAGE and immunoblotting. A) Secreted and total GALC expression were detected using western blot with an anti‐FLAG antibody. Actin served as a loading control. B) Conditioned media and cell lysates were digested with either EndoH or with PNGaseF before immunoblotting with anti‐FLAG‐to detect GALC.