The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.
Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
Open accessAbstract
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.
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Cited by
Alqahtani, A. S., Hidayathulla, S., Rehman, M. T., ElGamal, A. A., Al-Massarani, S., Razmovski-Naumovski, V., Alqahtani, M. S., El Dib, R. A., & AlAjmi, M. F. (2019) · Biomolecules · doi:10.3390/biom10010061 · Cited by 285
Second-Generation Pharmacological Chaperones: Beyond Inhibitors
Tran, M. L., Génisson, Y., Ballereau, S., & Dehoux, C. (2020) · Molecules · doi:10.3390/molecules25143145 · Cited by 63
Lysosomal glucose sensing and glycophagy in metabolism
Mancini, M. C., Noland, R. C., Collier, J. J., Burke, S. J., Stadler, K., & Heden, T. D. (2023) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2023.07.008 · Cited by 26
Huang, T., Liu, P., Lin, Y., & Tsai, J. (2022) · Journal of the Science of Food and Agriculture · doi:10.1002/jsfa.11402 · Cited by 23
Metadata
- Authors
- Roig-Zamboni, V., Cobucci-Ponzano, B., Iacono, R., Ferrara, M. C., Germany, S., Bourne, Y., Parenti, G., Moracci, M., & Sulzenbacher, G.
- Venue
- Nature Communications
- Published
- 2017-10-24
- Volume
- 8
- Issue
- 1
- Pages
- 1111-1111
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2765767308
- Cited by
- 317
- References
- 47
- FWCI
- 8.76
- Type
- journal article
- Language
- en
- Open access
- gold
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- Roig-Zamboni, V., Cobucci-Ponzano, B., Iacono, R., Ferrara, M. C., Germany, S., Bourne, Y., Parenti, G., Moracci, M., & Sulzenbacher, G. (2017). Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease. Nature Communications. https://doi.org/10.1038/s41467-017-01263-3
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