fig1

Figure 1. Schematic Representation of the Organellar Contribution to Gaucher disease (GD) Pathophysiology (Created in https://BioRender.com. Mutations in the GBA1 gene, which encodes for glucocerebrosidase (GCase) enzymes, can lead to lysosomal impairment. This can cause accumulation of glycosphingolipids such as glucosylceramides (GlcCer), which can trigger oxidative stress, impair cellular energetics by reducing adenosine triphosphates (ATP) synthesis, and cause mitochondrial dysfunction and inflammation. Moreover, misfolded GCase proteins can accumulate in the endoplasmic reticulum (ER), triggering the Unfolded Protein Response (UPR), increasing reactive oxygen species (ROS), disrupting calcium signaling, and causing prolonged ER-associated degradation (ERAD).