Deep next-generation proteomics and network analysis reveal systemic and tissue-specific patterns in Fabry disease

Fabry disease (FD) is an X-linked lysosomal rare disease due to a deficiency of α-galactosidase A activity. The accumulation of glycosphingolipids mainly affects the kidney, heart, and central nervous system, considerably reducing life expectancy. Although the accumulation of undegraded substrate is considered the primary cause of FD, it is established that secondary dysfuncti ons at the cellular, tissue, and organ levels ultimately give rise to the clinical phenotype. To parse this biological complexity, a large-scale deep plasma targeted proteomic profiling has been performed.

Source: Translational Research - February 27, 2023 Category: Research Authors: Abdellah Tebani, Fr édéric Barbey, Olivier Dormond, Franklin Ducatez, Stéphane Marret, Albina Nowak, Soumeya Bekri Source Type: research