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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Autors principals: Lemieux, M. Joanne, Mark, Brian L., Cherney, Maia M., Withers, Stephen G., Mahuran, Don J., James, Michael N. G.
Format: Artigo
Idioma:Inglês
Publicat: 2006
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Article
Accés en línia: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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