New directions in the treatment of Gaucher disease.
نویسندگان
چکیده
Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel Department of Structural Biology, Weizmann Institute of Science, Rehovot 76100, Israel Department of Cell Research and Immunology, Tel Aviv University, Ramat-Aviv 69978, Israel Department of Neurobiology, Weizmann Institute of Science, Rehovot 76100, Israel Gaucher Clinic, Sha’are Zedek Medical Center, Jerusalem 91031, Israel
منابع مشابه
Report of Four Children with Gaucher Disease and Review of Literature
Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnos...
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Background: Gaucher disease is an autosomal recessive inherited lysosomal storage disorder that affects many of the body's organs and tissues by defective function of the catabolic enzyme β-glucocerebrosidase. Gene therapy is one of the efficient ways for treatment of this disease. Due to the lack of appropriate animal models, in the field of gene therapy little progress has been done.Mate...
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Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate more on the genotype of less known mutations through haplotype analysis to explain their disease-causi...
متن کاملA new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease.
BACKGROUND Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy. Analysis of Gaucher disease registry data has outlined the clinical heterogeneity of the disease and the different responses to treatment from patient to patient, and for different organs. This variability in clinica...
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Mutations in both acid-β-glucosidase (GCase) and saposin C lead to Gaucher disease, the most common lysosomal storage disorder. The past several years have seen an explosion of structural and biochemical information for these proteins, which have provided new insight into the biology and pathogenesis of Gaucher disease, as well as opportunities for new therapeutic directions. Nearly 20 crystal ...
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ورودعنوان ژورنال:
- Trends in pharmacological sciences
دوره 25 3 شماره
صفحات -
تاریخ انتشار 2004