Reversal of advanced disease in lysosomal acid lipase deficient mice: A model for lysosomal acid lipase deficiency disease
详细信息 查看全文
- 作者：Ying Suna ; b ; ying.sun@cchmc.org" class="auth_mail ; You-Hai Xua ; b ; Hong Duc ; Brian Quinna ; Benjamin Lioua ; Lori Stantona ; Venette Inskeepa ; Huimin Rana ; Phillip Jakubowitza ; d ; Nicholas Grilliota ; d ; Gregory A. Grabowskia ; b ; e
- 关键词：LAL ; lysosomal acid lipase ; TG ; triglycerides ; CE ; cholesteryl esters ; WD ; Wolman disease ; CESD ; cholesterol ester storage disease ; ET ; enzyme therapy ; rhLAL ; recombinant human LAL ; 4-MUO ; 4-methylumbelliferyloleate ; ORO ; Oil Red-O
- 刊名：Molecular Genetics and Metabolism
- 出版年：July 2014
- 年：2014
- 卷：112
- 期：3
- 页码：229-241
- 全文大小：3545 K
文摘
- •
Investigational enzyme therapy was evaluated in lysosomal acid lipase knockout mice.
- •
Significant beneficial effects were evident on the lipids reduction.
- •
Long term treatment improved survival rate and overall disease reversibility.
- •
Enzyme therapy mitigated advanced disease biochemically and histopathologically.
- •
The findings provide rationale for long-term treatment and higher dose intervention.