Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.

@article{Vaccaro2010SaposinCM,
  title={Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.},
  author={Anna Maria Vaccaro and Marialetizia Motta and Massimo Tatti and Susanna Scarpa and Laura Masuelli and Meenakshi Bhat and Marie Th{\'e}r{\`e}se Vanier and Anna Tylki-Szymańska and Rosa Salvioli},
  journal={Human molecular genetics},
  year={2010},
  volume={19 15},
  pages={2987-97}
}
Gaucher disease (GD) is characterized by accumulation of glucosylceramide (GC) in the cells of monocyte/macrophage system. The degradation of GC is controlled by glucosylceramidase (GCase) and saposin (Sap) C, a member of a family of four small glycoproteins (Saps A, B, C and D), all derived by proteolytic processing of a common precursor, prosaposin (PSAP). Saps contain six cysteine residues, forming three disulfide bridges, that affect their structure and function. Sap C is an essential… CONTINUE READING