Molecular biology of glucocerebrosidase and the treatment of Gaucher disease.
作者信息
Barranger J A, Tomich J, Weiler S, Sakallah S, Sansieri C, Mifflin T, Bahnson A, Wei F S, Wei J F, Vallor M
机构信息
Department of Human Genetics, University of Pittsburgh, USA.
出版信息
Cytokines Mol Ther. 1995 Sep;1(3):149-63.
PMID:9384672
Abstract
The inherited deficiency of glucocerebrosidase results in a group of sphingolipid storage disorders referred to collectively as Gaucher disease. Study of the biochemistry and cell biology of glucocerebrosidase has made possible an effective enzyme replacement therapy for the disease. Definition of the molecular genetics of glucocerebrosidase has improved diagnostic capabilities and presents the exciting possibility of a cure through gene therapy.
摘要
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