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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:
Wustman, Brandon
申请号:
AU2006254796
公开号:
AU2006254796B2
申请日:
2006.06.08
申请国别(地区):
AU
年份:
2012
代理人:
摘要:
Described is a method for treating an individual having a neurological disorder withan associated mutation or mutations in a gene encoding a lysosomal enzyme. Specifically,the individual is administered a specific pharmacological chaperone for thelysosomal enzyme which increases trafficking of the protein from the ER to thelysosome in neural cells, with or without concomitantly increasing enzyme activityin neural cells. Restoration of trafficking relieves cell stress and other toxicitiesassociated with accumulation of mutant proteins. Restoration of enzyme activityrelieves substrate accumulation and pathologies associated with lipid accumulation.In a specific embodiment, the neurological disorder is Parkinson's diseaseor parkinsonism which is associated with mutations in glucocerebrosidase.
来源网站:
中国工程科技知识中心
来源网址:
http://www.ckcest.cn/home/

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