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

Pompe disease is caused by mutations in lysosomal acid α-glucosidase (GAA) and patients are being treated with recombinant human α-glucosidase (rhGAA). Here the authors present the crystal structures of rhGAA and its complexes with inhibitors and a pharmacological chaperone, which is important for d...

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Autores principales:	Véronique Roig-Zamboni, Beatrice Cobucci-Ponzano, Roberta Iacono, Maria Carmina Ferrara, Stanley Germany, Yves Bourne, Giancarlo Parenti, Marco Moracci, Gerlind Sulzenbacher
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/1092edf30ccd4d65964b3a4b8b5fdd66
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spelling	oai:doaj.org-article:1092edf30ccd4d65964b3a4b8b5fdd662021-12-02T14:42:16ZStructure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease10.1038/s41467-017-01263-32041-1723https://doaj.org/article/1092edf30ccd4d65964b3a4b8b5fdd662017-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-01263-3https://doaj.org/toc/2041-1723Pompe disease is caused by mutations in lysosomal acid α-glucosidase (GAA) and patients are being treated with recombinant human α-glucosidase (rhGAA). Here the authors present the crystal structures of rhGAA and its complexes with inhibitors and a pharmacological chaperone, which is important for drug development.Véronique Roig-ZamboniBeatrice Cobucci-PonzanoRoberta IaconoMaria Carmina FerraraStanley GermanyYves BourneGiancarlo ParentiMarco MoracciGerlind SulzenbacherNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Véronique Roig-Zamboni Beatrice Cobucci-Ponzano Roberta Iacono Maria Carmina Ferrara Stanley Germany Yves Bourne Giancarlo Parenti Marco Moracci Gerlind Sulzenbacher Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
description	Pompe disease is caused by mutations in lysosomal acid α-glucosidase (GAA) and patients are being treated with recombinant human α-glucosidase (rhGAA). Here the authors present the crystal structures of rhGAA and its complexes with inhibitors and a pharmacological chaperone, which is important for drug development.
format	article
author	Véronique Roig-Zamboni Beatrice Cobucci-Ponzano Roberta Iacono Maria Carmina Ferrara Stanley Germany Yves Bourne Giancarlo Parenti Marco Moracci Gerlind Sulzenbacher
author_facet	Véronique Roig-Zamboni Beatrice Cobucci-Ponzano Roberta Iacono Maria Carmina Ferrara Stanley Germany Yves Bourne Giancarlo Parenti Marco Moracci Gerlind Sulzenbacher
author_sort	Véronique Roig-Zamboni
title	Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
title_short	Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
title_full	Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
title_fullStr	Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
title_full_unstemmed	Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease
title_sort	structure of human lysosomal acid α-glucosidase–a guide for the treatment of pompe disease
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/1092edf30ccd4d65964b3a4b8b5fdd66
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Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease

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