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Variant, recombinant beta-glucocerebrosidase proteins with increased stability and increased retained catalytic activity
专利权人:
Amicus Therapeutics; Inc.
发明人:
Hung V. Do
申请号:
US15430682
公开号:
US09821038B2
申请日:
2017.02.13
申请国别(地区):
US
年份:
2017
代理人:
摘要:
Described herein are variant, recombinant β-glucocerebrosidase proteins characterized as having increased stability relative to recombinant wild-type β-glucocerebrosidase. Also provided herein are variant, recombinant β-glucocerebrosidase proteins characterized as retaining more catalytic activity relative to recombinant wild-type β-glucocerebrosidase. Further described herein are variant, recombinant β-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 β-glucocerebrosidase proteins are also described as well as methods of treating patients having lysosomal storage diseases.
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