Ontology highlight
ABSTRACT:
SUBMITTER: Charoenwattanasatien R
PROVIDER: S-EPMC4949581 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Charoenwattanasatien Ratana R Pengthaisong Salila S Breen Imogen I Mutoh Risa R Sansenya Sompong S Hua Yanling Y Tankrathok Anupong A Wu Liang L Songsiriritthigul Chomphunuch C Tanaka Hideaki H Williams Spencer J SJ Davies Gideon J GJ Kurisu Genji G Cairns James R Ketudat JR
ACS chemical biology 20160506 7
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-talk between GBA2 and GBA1 glucosylceramidases may affect Gaucher disease. Here, we report the first three-dimensional structure for any GH116 enzyme, Thermoanaerobacterium xylanolyticum TxGH116 β-glucosidase, alone and i ...[more]