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Treatment of CNS Disorders Associated with Mutations in Genes Encoding Lysosomal Enzymes
专利权人:
Inc.;Amicus Therapeutics
发明人:
Brandon Alan Wustman
申请号:
US14506118
公开号:
US20150133496A1
申请日:
2014.10.03
申请国别(地区):
US
年份:
2015
代理人:
摘要:
Described is a method for treating an individual having a neurological disorder with an associated mutation or mutations in a gene encoding a lysosomal enzyme. Specifically, the individual is administered a specific pharmacological chaperone for the lysosomal enzyme which increases trafficking of the protein from the ER to the lysosome in neural cells, with or without concomitantly increasing enzyme activity in neural cells. Restoration of trafficking relieves cell stress and other toxicities associated with accumulation of mutant proteins. Restoration of enzyme activity relieves substrate accumulation and pathologies associated with lipid accumulation. In a specific embodiment, the neurological disorder is Parkinson's disease or parkinsonism which is associated with mutations in glucocerebrosidase.
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中国工程科技知识中心
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http://www.ckcest.cn/home/

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