Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Stijn L M, In 't Groen"'
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
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
Autor:
Esther Kuperus, Jan C van der Meijden, Stijn L M In 't Groen, Marian A Kroos, Marianne Hoogeveen-Westerveld, Dimitris Rizopoulos, Monica Yasmin Nino Martinez, Michelle E Kruijshaar, Pieter A van Doorn, Nadine A M E van der Beek, Ans T van der Ploeg, W W M Pim Pijnappel
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0208854 (2018)
The majority of children and adults with Pompe disease in the population of European descent carry the leaky splicing GAA variant c.-32-13T>G (IVS1) in combination with a fully deleterious GAA variant on the second allele. The phenotypic spectrum of
Externí odkaz:
https://doaj.org/article/16edc4285a074ac2a8cd57cda3d8cf22
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
https://doi.org/10.1007/978-1-0716-1657-4_26
Autor:
Vincenza, Gragnaniello, Pim W W M, Pijnappel, Alessandro P, Burlina, Stijn L M, In 't Groen, Daniela, Gueraldi, Chiara, Cazzorla, Evelina, Maines, Giulia, Polo, Leonardo, Salviati, Giovanni, Di Salvo, Alberto B, Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, 33:100929. Elsevier
Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9cbaa38ae1a4fd14ae67719200c633
https://hdl.handle.net/11577/3468263
https://hdl.handle.net/11577/3468263
Autor:
Manjiro Yamanaka, Satoru Takahashi, Ans T. van der Ploeg, Stijn L. M. in ‘t Groen, Atze J. Bergsma, Toshika Okumiya, W.W.M. Pim Pijnappel, Fabio Catalano
Publikováno v:
European Journal of Human Genetics, 29(3), 422-433. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics
DNA variants affecting mRNA expression and processing in genetic diseases are often missed or poorly characterized. We previously reported a generic assay to identify variants that affect mRNA expression and splicing in Pompe disease, a monogenic dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9ab5c84847c9715d83aadef37f6ab1
https://pure.eur.nl/en/publications/83cd8ad3-0e3d-48e9-be1e-fa3fe92ff4df
https://pure.eur.nl/en/publications/83cd8ad3-0e3d-48e9-be1e-fa3fe92ff4df
Publikováno v:
Springer Protocols Handbooks ISBN: 9781071616567
Human induced pluripotent stem cell (hiPSCs) and gene editing technologies have become broadly accessible in the last few years and are no longer confined to specialized laboratories. As a result of these developments, both techniques are becoming in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5885aa3e25eafdeef26f36fa3bb73fe7
https://doi.org/10.1007/978-1-0716-1657-4_16
https://doi.org/10.1007/978-1-0716-1657-4_16
Autor:
Stijn L. M. in ‘t Groen, Erik van der Wal, Jessica C. de Greef, Alessandro Iuliano, Vittorio Saggiomo, Claudine W. B. Ruijmbeek, W.W.M. Pim Pijnappel
Publikováno v:
Advanced Materials Technologies, 5(9):2000344. Wiley-Blackwell
Advanced Materials Technologies 5 (2020) 9
Advanced Materials Technologies, 5(9)
Advanced Materials Technologies, 5(9). WILEY
Advanced Materials Technologies 5 (2020) 9
Advanced Materials Technologies, 5(9)
Advanced Materials Technologies, 5(9). WILEY
The transition from 2D to 3D engineered tissue cultures is changing the way biologists can perform in vitro functional studies. However, there has been a paucity in the establishment of methods required for the generation of microdevices and cost-eff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccad78bc61fb75a3b876251b2bd97e19
https://doi.org/10.1002/admt.202000344
https://doi.org/10.1002/admt.202000344
Autor:
Holm Zaehres, Hans R. Schöler, Ans T. van der Ploeg, Marcos J. Araúzo-Bravo, Tom J.M. van Gestel, Stijn L. M. in ‘t Groen, Atze J. Bergsma, W.W.M. Pim Pijnappel, Erik van der Wal
Publikováno v:
Molecular Therapy. Nucleic Acids
Molecular therapy. Nucleic acids, 7, 101-115. Cell Press
Molecular Therapy: Nucleic Acids, Vol 7, Iss C, Pp 101-115 (2017)
Molecular therapy. Nucleic acids, 7, 101-115. Cell Press
Molecular Therapy: Nucleic Acids, Vol 7, Iss C, Pp 101-115 (2017)
Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23499131375872cf55f7c224db634d8b
https://pure.eur.nl/en/publications/c0fcaa02-39e9-4848-be6a-5b1fb31c3169
https://pure.eur.nl/en/publications/c0fcaa02-39e9-4848-be6a-5b1fb31c3169
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
https://pubmed.ncbi.nlm.nih.gov/32071926