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X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease
Gaucher disease, the most common lysosomal storage disease, is caused by mutations in the gene that encodes acid-β-glucosidase (GlcCerase). Type 1 is characterized by hepatosplenomegaly, and types 2 and 3 by early or chronic onset of severe neurological symptoms. No clear correlation exists between...
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| Главные авторы: | , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2003
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1326319/ https://ncbi.nlm.nih.gov/pubmed/12792654 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.embor.embor873 |
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