増加した安定性および増加した保持触媒活性を有する変異型組換えβ−グルコセレブロシダーゼタンパク質

摘要

Described herein are variant, recombinant &bgr;-glucocerebrosidase proteins characterized as having increased stability relative to recombinant wild-type &bgr;-glucocerebrosidase. Also provided herein are variant, recombinant &bgr;-glucocerebrosidase proteins characterized as retaining more catalytic activity relative to recombinant wild-type &bgr;-glucocerebrosidase. Further described herein are variant, recombinant &bgr;-glucocerebrosidase proteins that can have amino acid variations at one or more of the following positions: 316, 317, 321 and 145. Methods of making the variant, recombinant &bgr;-glucocerebrosidase proteins are also described as well as methods of treating patients having lysosomal storage diseases.