Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 s...
Alternative Titles
Full title
Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1092edf30ccd4d65964b3a4b8b5fdd66
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1092edf30ccd4d65964b3a4b8b5fdd66
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-017-01263-3
