A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle

Autor: Stijn L. M. in ‘t Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C. de Greef, W. W. M. Pim Pijnappel

Publikováno v: Skeletal Muscle, Vol 14, Iss 1, Pp 1-14 (2024)

Abstract Background Human iPSC-derived 3D-tissue-engineered-skeletal muscles (3D-TESMs) offer advanced technology for disease modelling. However, due to the inherent genetic heterogeneity among human individuals, it is often difficult to distinguish

Externí odkaz: https://doaj.org/article/86c5be4ccc1e41ddbe14d9bb2d7fbe09

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

Autor: Gerben J. Schaaf, Tom J. M. van Gestel, Stijn L. M. in ‘t Groen, Bart de Jong, Björn Boomaars, Antonietta Tarallo, Monica Cardone, Giancarlo Parenti, Ans T. van der Ploeg, W. W. M. Pim Pijnappel

Publikováno v: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-16 (2018)

Abstract Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Previously, we showed that adult muscle stem cells termed satellite cells are prese

Externí odkaz: https://doaj.org/article/f51a553464da4d30a7d8d9011a9721bd

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

Correction to: CRISPR-Cas9-mediated Gene Editing in Human Induced Pluripotent Stem Cells

Autor: Stijn L. M. in ’t Groen, Mike Broeders, W. W. M. Pim Pijnappel

Publikováno v: Springer Protocols Handbooks ISBN: 9781071616567

In the original version of this book, chapter 16 was published non-open access. It has now been changed to open access under a CC BY 4.0 license and the copyright holder has been updated to “The Author(s).” This book has also been updated with th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f059ef83de32b72415240abeda48c161
https://doi.org/10.1007/978-1-0716-1657-4_26

Novel

Autor: Stijn L M, In 't Groen, Douglas O S, de Faria, Alessandro, Iuliano, Johanna M P, van den Hout, Hannie, Douben, Trijnie, Dijkhuizen, David, Cassiman, Peter, Witters, Miguel-Ángel, Barba Romero, Annelies, de Klein, Galhana M, Somers-Bolman, Jasper J, Saris, Lies H, Hoefsloot, Ans T, van der Ploeg, Atze J, Bergsma, W W M Pim, Pijnappel

Publikováno v: Molecular Therapy. Methods & Clinical Development

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1559e509b6f73c553ca79ef5de240608
https://pubmed.ncbi.nlm.nih.gov/32071926