Université de Fribourg

Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro

Brogden, Graham ; Shammas, Hadeel ; Maalouf, Katia ; Naim, Samara L. ; Wetzel, Gabi ; Amiri, Mahdi ; Köckritz-Blickwede, Maren von ; Das, Anibh M. ; Naim, Hassan Y.

In: Bioscience Reports, 2017, vol. 37, no. 2, p. BSR20160402

It is still not entirely clear how α-galactosidase A (GAA) deficiency translates into clinical symptoms of Fabry disease (FD). The present communication investigates the effects of the mutation N215S in FD on the trafficking and processing of lysosomal GAA and their potential association with alterations in the membrane lipid composition. Abnormalities in lipid rafts (LRs) were observed in...