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Pubmed ID :29061980
Publication Date : //

Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.


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.

Authors : Roig-Zamboni Véronique , Cobucci-Ponzano Beatrice , Iacono Roberta , Ferrara Maria Carmina , Germany Stanley , Bourne Yves , Parenti Giancarlo , Moracci Marco , Sulzenbacher Gerlind ,

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