Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism

Autor: Rodrigo Canibano‐Fraile, Laurike Harlaar, Carlos A. dos Santos, Marianne Hoogeveen‐Westerveld, Jeroen A. A. Demmers, Tim Snijders, Philip Lijnzaad, Robert M. Verdijk, Nadine A. M. E. van der Beek, Pieter A. van Doorn, Ans T. van der Ploeg, Esther Brusse, W. W. M. Pim Pijnappel, Gerben J. Schaaf

Publikováno v: Journal of Inherited Metabolic Disease, 46(1), 101-115. Springer Netherlands
Journal of Inherited Metabolic Disease, 46(1), 101-115. Wiley

Pompe disease is an inherited metabolic myopathy caused by deficiency of acid α-glucosidase (GAA), resulting in lysosomal glycogen accumulation. Residual GAA enzyme activity affects disease onset and severity, although other factors, including dysre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b69f102a82a132e9c195179086f49e56
https://doi.org/10.1002/jimd.12560

Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease

Autor: Ans T. van der Ploeg, Rodrigo Canibano-Fraile, Gerben J. Schaaf, W.W.M. Pim Pijnappel, Tom J.M. van Gestel

Publikováno v: Annals of Translational Medicine, 7(13):280. AME Publishing Company

Skeletal muscle is capable of efficiently regenerating after damage in a process mediated by tissue-resident stem cells called satellite cells. This regenerative potential is often compromised under muscle-degenerative conditions. Consequently, the d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab0fb4a17f8c64a049d5154b0f55a827
https://pure.eur.nl/en/publications/27c165ac-4858-463d-b96c-d581256575ba