| http://purl.uniprot.org/citations/29061980 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29061980 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29061980 | http://www.w3.org/2000/01/rdf-schema#comment | "Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap and premature death. Numerous disease-causing mutations in the gaa gene have been reported, but the structural effects of the pathological variants were unknown. Here we present the high-resolution crystal structures of recombinant human GAA (rhGAA), the standard care of Pompe disease. These structures portray the unbound form of rhGAA and complexes thereof with active site-directed inhibitors, providing insight into substrate recognition and the molecular framework for the rationalization of the deleterious effects of disease-causing mutations. Furthermore, we report the structure of rhGAA in complex with the allosteric pharmacological chaperone N-acetylcysteine, which reveals the stabilizing function of this chaperone at the structural level."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-017-01263-3"xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-017-01263-3"xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Bourne Y."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Bourne Y."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Moracci M."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Moracci M."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Roig-Zamboni V."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Roig-Zamboni V."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Sulzenbacher G."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Sulzenbacher G."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Ferrara M.C."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Ferrara M.C."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Parenti G."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Parenti G."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Iacono R."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Iacono R."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Cobucci-Ponzano B."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Cobucci-Ponzano B."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Germany S."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/author | "Germany S."xsd:string |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/29061980 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |