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Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2)
[Image: see text] Human glucosylcerebrosidase 2 (GBA2) of the CAZy family GH116 is responsible for the breakdown of glycosphingolipids on the cytoplasmic face of the endoplasmic reticulum and Golgi apparatus. Genetic defects in GBA2 result in spastic paraplegia and cerebellar ataxia, while cross-tal...
Autores principales: | Charoenwattanasatien, Ratana, Pengthaisong, Salila, Breen, Imogen, Mutoh, Risa, Sansenya, Sompong, Hua, Yanling, Tankrathok, Anupong, Wu, Liang, Songsiriritthigul, Chomphunuch, Tanaka, Hideaki, Williams, Spencer J., Davies, Gideon J., Kurisu, Genji, Cairns, James R. Ketudat |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Chemical
Society
2016
|
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949581/ https://www.ncbi.nlm.nih.gov/pubmed/27115290 http://dx.doi.org/10.1021/acschembio.6b00192 |
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