Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus

Autor: Tayma Handal, Sarah Juster, Manar Abu Diab, Shira Yanovsky-Dagan, Fouad Zahdeh, Uria Aviel, Roni Sarel-Gallily, Shir Michael, Ester Bnaya, Shulamit Sebban, Yosef Buganim, Yotam Drier, Vincent Mouly, Stefan Kubicek, Walther J. A. A. van den Broek, Derick G. Wansink, Silvina Epsztejn-Litman, Rachel Eiges

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)

Abstract Epigenetic defects caused by hereditary or de novo mutations are implicated in various human diseases. It remains uncertain whether correcting the underlying mutation can reverse these defects in patient cells. Here we show by the analysis o

Externí odkaz: https://doaj.org/article/f2f26f7be8be43019350e3bc09541979

CRISPR/Cas9-Induced (CTG⋅CAG) n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing

Autor: Derick G. Wansink, Marieke Willemse, Ingeborg D.G. van Kessel, Walther J. A. A. van den Broek, Laurène M. André, Geneviève Gourdon, Bé Wieringa, Ellen L. van Agtmaal, Denis Furling, Vincent Mouly, Darren G. Monckton, Sarah A. Cumming

Publikováno v: Molecular Therapy
Molecular Therapy, Cell Press, 2017, 25 (1), pp.24-43. ⟨10.1016/j.ymthe.2016.10.014⟩
Molecular Therapy, 25, 1, pp. 24-43
Molecular Therapy, 25, 24-43
Molecular Therapy, Nature Publishing Group, 2017, 25 (1), pp.24-43. 〈10.1016/j.ymthe.2016.10.014〉
Molecular Therapy, 2017, 25 (1), pp.24-43. ⟨10.1016/j.ymthe.2016.10.014⟩

Myotonic dystrophy type 1 (DM1) is caused by (CTG⋅CAG)n-repeat expansion within the DMPK gene and thought to be mediated by a toxic RNA gain of function. Current attempts to develop therapy for this disease mainly aim at destroying or blocking abno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e1a2208b2f9cbf6557fb8cc4e51611
https://doi.org/10.1016/j.ymthe.2016.10.014

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

Fen1 does not control somatic hypermutability of the (CTG)(n)*(CAG)(n) repeat in a knock-in mouse model for DM1

Autor: Derick G. Wansink, Walther J. A. A. van den Broek, Marcel R. Nelen, Bé Wieringa, Godfried W. van der Heijden

Publikováno v: FEBS Letters, 580, 5208-14
FEBS Letters, 580, 22, pp. 5208-14

Contains fulltext : 49344.pdf (Publisher’s version ) (Closed access) The mechanism of trinucleotide repeat expansion, an important cause of neuromuscular and neurodegenerative diseases, is poorly understood. We report here on the study of the role

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303c6f493b792685a8a2c6b5df34342e
https://hdl.handle.net/2066/49344

Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy

Autor: Carmen Perez-Terzic, Xiao Ke Liu, Derick G. Wansink, Walther J. A. A. van den Broek, Atta Behfar, Bé Wieringa, Garvan C. Kane, D. Fearghas O'Cochlain, Jeffrey A. Strommen, Andre Terzic, Santiago Reyes, Denice M. Hodgson

Publikováno v: Human Molecular Genetics, 13, 2505-18
Human Molecular Genetics, 13, 20, pp. 2505-18

Contains fulltext : 59209.pdf (Publisher’s version ) (Closed access) Abnormal expression of human myotonic dystrophy protein kinase (hDMPK) gene products has been implicated in myotonic dystrophy type 1 (DM1), yet the impact of distress accumulatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e30c4cd42155401d81d17c2e92a482b5
https://pubmed.ncbi.nlm.nih.gov/15317754