Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase

• Autores principales: Roberta Iacono (Autor), Nadia Minopoli (Autor), Maria Carmina Ferrara (Autor), Antonietta Tarallo (Autor), Carla Damiano (Autor), Caterina Porto (Autor), Sandra Strollo (Autor), Véronique Roig-Zamboni (Autor), Gianfranco Peluso (Autor), Gerlind Sulzenbacher (Autor), Beatrice Cobucci-Ponzano (Autor), Giancarlo Parenti (Autor), Marco Moracci (Autor)
• Formato: Libro
• Publicado: Taylor & Francis Group, 2021-01-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Pompe disease is an inherited metabolic disorder due to the deficiency of the lysosomal acid α-glucosidase (GAA). The only approved treatment is enzyme replacement therapy with the recombinant enzyme (rhGAA). Further approaches like pharmacological chaperone therapy, based on the stabilising effect...