Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model

Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model

Pompe disease is a rare genetic metabolic disorder caused by mutations in acid-alpha glucoside (GAA) leading to pathological lysosomal glycogen accumulation associated with skeletal muscle weakness, respiratory difficulties and cardiomyopathy, dependent from the GAA residual enzyme activity. This st...

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Bibliographic Details
Main Authors: Marlena Rohm, Leon Volke, Lara Schlaffke, Robert Rehmann, Nicolina Südkamp, Andreas Roos, Anne Schänzer, Andreas Hentschel, Matthias Vorgerd
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Cells
Subjects:
Pompe disease
Gaa<sup>6neo/6neo</sup> mouse
proteomics
muscular disease
Online Access:https://www.mdpi.com/2073-4409/12/12/1602

Internet

https://www.mdpi.com/2073-4409/12/12/1602

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