Article
The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.
The Biochemical journal - 15 Aug 2005
Salvioli Rosa, Tatti Massimo, Scarpa Susanna, Moavero Sabrina Maria, Ciaffoni Fiorella, Felicetti Federica, Kaneski Christine R, Brady Roscoe O, Vaccaro Anna Maria
Abstract excerpt
The properties of the endolysosomal enzyme GCase (glucosylceramidase), carrying the most prevalent mutation observed in Gaucher patients, namely substitution of an asparagine residue with a serine at amino acid position 370 [N370S (Asn370-->Ser) GCase], were investigated in the present study. We previously demonstrated that Sap (saposin) C, the physiological GCase activator, promotes the association of GCase with...
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