Fig. 2

Characteristics of the LIMP-2 associated mechanisms. 1-) Illustration of the LIMP-2 active domains and the particular mutation locations. 2-) LIMP-2 and GC complex formation, transfer of LIMP-2 and GC complex form ER through Golgi apparatus, and possible modifiers implicated in those molecular mechanisms. Cellular models with SCARB2 pathogenic variants showed ER retention of LIMP-2 independent from the disturbed affinity of the GC binding site. 3-) Disassociation of the LIMP-2 and GC complex in a pH-dependent manner in lysosomes. 4-) Unexplained cell type specific impact of the perturbed mechanisms. 5-) Unexpained mechanisms causing disfunction of brain and kidney in AMRF. 6-) Convergent mechanisms implicated in PD, GD and AMRF. GC: β-glucocerebrosidase, TM: transmembrane domain, CT: cytoplasmic domain, ER: endoplasmic reticulum, AMRF: action myoclonus-renal failure, PD: Parkinson's disease, GD: Gaucher disease