Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease

Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease

Mutations in the acidic alpha-glucosidase (GAA) coding gene cause Pompe disease. Late-onset Pompe disease (LOPD) is characterized by progressive proximal and axial muscle weakness and atrophy, causing respiratory failure. Enzyme replacement therapy (ERT), based on recombinant human GAA infusions, is...

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Bibliographic Details
Main Authors: Manuela Moriggi, Daniele Capitanio, Enrica Torretta, Pietro Barbacini, Cinzia Bragato, Patrizia Sartori, Maurizio Moggio, Lorenzo Maggi, Marina Mora, Cecilia Gelfi
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:International Journal of Molecular Sciences
Subjects:
pompe disease
sarcopenia
autophagy
rare disease
proteomics
mass spectrometry
Online Access:https://www.mdpi.com/1422-0067/22/6/2850

Internet

https://www.mdpi.com/1422-0067/22/6/2850

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