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Crystallographic Structure of Human β-Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of G(M2) Ganglioside Hydrolysis
Lysosomal β-hexosaminidase A (Hex A) is essential for the degradation of G(M2) gangliosides in the central and peripheral nervous system. Accumulation of G(M2) leads to severely debilitating neurodegeneration associated with Tay-Sachs disease (TSD), Sandoff disease (SD) and AB variant. Here, we pres...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2006
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2910082/ https://ncbi.nlm.nih.gov/pubmed/16698036 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmb.2006.04.004 |
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