Cell membrane integrity in myotonic dystrophy type 1: implications for therapy.

Autor: Anchel González-Barriga, Julia Kranzen, Huib J E Croes, Suzanne Bijl, Walther J A A van den Broek, Ingeborg D G van Kessel, Baziel G M van Engelen, Judith C T van Deutekom, Bé Wieringa, Susan A M Mulders, Derick G Wansink

Publikováno v: PLoS ONE, Vol 10, Iss 3, p e0121556 (2015)

Myotonic Dystrophy type 1 (DM1) is a multisystemic disease caused by toxic RNA from a DMPK gene carrying an expanded (CTG•CAG)n repeat. Promising strategies for treatment of DM1 patients are currently being tested. These include antisense oligonucl

Externí odkaz: https://doaj.org/article/e315422256e242feba27e3e2c97a4a55

Intracellular Distribution and Nuclear Activity of Antisense Oligonucleotides After Unassisted Uptake in Myoblasts and Differentiated Myotubes In Vitro

Autor: Bram Nillessen, H.J.E. Croes, Begoña Aguilera, Peter C de Visser, Derick G. Wansink, Susan A. M. Mulders, Bé Wieringa, Julia Kranzen, Ingeborg D.G. van Kessel, Nicole A. Datson, Judith C.T. van Deutekom, Anchel González-Barriga

Publikováno v: Nucleic Acid Therapeutics, 27, 144-158
Nucleic Acid Therapeutics
Nucleic Acid Therapeutics, 27, 3, pp. 144-158

Contains fulltext : 174425.pdf (Publisher’s version ) (Closed access) Clinical efficacy of antisense oligonucleotides (AONs) for the treatment of neuromuscular disorders depends on efficient cellular uptake and proper intracellular routing to the t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50e10155b175790e85b059b4782aff9
https://doi.org/10.1089/nat.2016.0641

Abnormal actomyosin assembly in proliferating and differentiating myoblasts upon expression of a cytosolic DMPK isoform

Autor: Miranda B. Bennink, Susan A. M. Mulders, Mietske Wijers, Jack A.M. Fransen, Remco van Horssen, Fons A. J. van de Loo, Bé Wieringa, Roelie T. de Boer-van Huizen, Lieke Gerrits, H.J.E. Croes, Helma Pluk, Derick G. Wansink

Publikováno v: Biochimica et Biophysica Acta. Molecular Cell Research, 1813, 5, pp. 867-77
Biochimica et Biophysica Acta. Molecular Cell Research, 1813, 867-77
ResearcherID

Contains fulltext : 97603.pdf (Publisher’s version ) (Closed access) DMPK, the product of the mutated gene in myotonic dystrophy type 1, belongs to the subfamily of Rho-associated serine-threonine protein kinases, whose members play a role in actin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d296c635cd2ad1d30f5b3b147dd514f

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy

Autor: Geneviève Gourdon, Sjef J. de Kimpe, Gerard Johannes Platenburg, Derick G. Wansink, Charles A. Thornton, Bé Wieringa, Walther J. A. A. van den Broek, Susan A. M. Mulders, Thurman M. Wheeler, Denis Furling, H.J.E. Croes, Petra Van Kuik-Romeijn

Publikováno v: Proceedings of the National Academy of Sciences USA, 106, 13915-20
Proceedings of the National Academy of Sciences USA, 106, 33, pp. 13915-20
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2009, 106 (33), pp.13915-13920. ⟨10.1073/pnas.0905780106⟩

Contains fulltext : 81075.pdf (Publisher’s version ) (Closed access) Myotonic dystrophy type 1 (DM1) is caused by toxicity of an expanded, noncoding (CUG)n tract in DM protein kinase (DMPK) transcripts. According to current evidence the long (CUG)n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::582a9ac62aef946e17e9e86b6f766ce1
https://doi.org/10.1073/pnas.0905780106

Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide

Autor: Susan A. M. Mulders, Barry A. Pepers, Gert-Jan B. van Ommen, Annemieke Aartsma-Rus, Willeke M. C. van Roon-Mom, Johan T. den Dunnen, Judith C.T. van Deutekom, Melvin M. Evers

Publikováno v: PLoS ONE, 6(9)
PLoS ONE
PLoS ONE, Vol 6, Iss 9, p e24308 (2011)
PLoS One, 6
PLoS One, 6, 9

Contains fulltext : 98397.pdf (Publisher’s version ) (Open Access) To date there are 9 known diseases caused by an expanded polyglutamine repeat, with the most prevalent being Huntington's disease. Huntington's disease is a progressive autosomal do

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7889034952a2cfded08ac3ee5adf5e69
http://hdl.handle.net/1887/118127