Semi-preparative expression and purification of a recombinant glucocerebrosidase protein with a PTD4 transduction domain: a potential therapeutic strategy for neuronopathic Gaucher’s disease.
Gaucher’s disease (GD) is an autosomal recessive lysosomal storage disorder which is caused by a mutation in the gene encoding acid β-glucocerebrosidase (GBA, EC 3.2.1.45). Deficient activity in GBA leads to a wide variety of clinical phenotypes, including visceral symptoms such as hepatospenomegaly...
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Language: | en |
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2012
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Online Access: | http://hdl.handle.net/1828/4166 |