Identification of alterations of immunometabolism associated with Pompe disease

Abstract Pompe disease (PD) is a neuromuscular lysosomal storage disorder caused by mutations in the GAA gene, characterized by progressive glycogen accumulation in multiple tissues and autophagy and metabolic abnormalities. While immunological changes have largely been overlooked as part of PD's sy...

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Auteurs principaux:	Helena Costa-Verdera, Marco Gargaro, Umut Cagin, Giorgia Manni, Giulia Scalisi, Philippe Veron, Estevão Carlos Silva Barcelos, Benedetta Pieroni, Giulia Mencarelli, Doriana Ricciuti, Ivan Nemazanyy, Peggy Sanatine, Laetitia van Wittenberghe, Pascal Laforêt, David-Alexandre Gross, Giuseppe Ronzitti, Francesca Fallarino, Federico Mingozzi
Format:	Artigo
Langue:	Inglês
Publié:	Springer 2026-03-01
Collection:	Cellular and Molecular Life Sciences
Sujets:	Immunometabolism Immunogenicity Enzyme replacement therapy Autophagy Mitophagy T cells
Accès en ligne:	https://doi.org/10.1007/s00018-026-06135-y
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