The N370S (Asn(370)→Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C

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 (Asn(370)→Ser) GCase], were investigated in the present study. We pre...

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Main Authors: Salvioli, Rosa, Tatti, Massimo, Scarpa, Susanna, Moavero, Sabrina Maria, Ciaffoni, Fiorella, Felicetti, Federica, Kaneski, Christine R., Brady, Roscoe O., Vaccaro, Anna Maria
Format: Artigo
Sprog:Inglês
Udgivet: Portland Press Ltd. 2005
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1184565/
https://ncbi.nlm.nih.gov/pubmed/15826241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20050325
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