Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Rudie Weij"'
Autor:
Eleni Kourkouta, Rudie Weij, Anchel González-Barriga, Melissa Mulder, Ruurd Verheul, Sieto Bosgra, Bas Groenendaal, Jukka Puoliväli, Jussi Toivanen, Judith C.T. van Deutekom, Nicole A. Datson
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 17, Iss , Pp 601-614 (2019)
Spinocerebellar ataxia type 3 (SCA3) and type 1 (SCA1) are dominantly inherited neurodegenerative disorders that are currently incurable. Both diseases are caused by a CAG-repeat expansion in exon 10 of the Ataxin-3 and exon 8 of the Ataxin-1 gene, r
Externí odkaz:
https://doaj.org/article/4aac4d314099400380a0e2e1b7db3c07
Autor:
Alper Yavas, Rudie Weij, Maaike van Putten, Eleni Kourkouta, Chantal Beekman, Jukka Puoliväli, Timo Bragge, Toni Ahtoniemi, Jeroen Knijnenburg, Marlies Elisabeth Hoogenboom, Yavuz Ariyurek, Annemieke Aartsma-Rus, Judith van Deutekom, Nicole Datson
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0244215 (2020)
Duchenne muscular dystrophy (DMD) is a severe, progressive neuromuscular disorder caused by reading frame disrupting mutations in the DMD gene leading to absence of functional dystrophin. Antisense oligonucleotide (AON)-mediated exon skipping is a th
Externí odkaz:
https://doaj.org/article/77187c115727491f8d71a4bd11be5bd2
Autor:
Judith van Deutekom, Chantal Beekman, Suzanne Bijl, Sieto Bosgra, Rani van den Eijnde, Dennis Franken, Bas Groenendaal, Bouchra Harquouli, Anneke Janson, Paul Koevoets, Melissa Mulder, Daan Muilwijk, Galyna Peterburgska, Bianca Querido, Janwillem Testerink, Ruurd Verheul, Peter de Visser, Rudie Weij, Annemieke Aartsma-Rus, Jukka Puoliväli, Timo Bragge, Charles O'Neill, Nicole A. Datson
Publikováno v:
Nucleic Acid Therapeutics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c189efe6f501e93d50dd9a15beb55118
https://doi.org/10.1089/nat.2022.0063
https://doi.org/10.1089/nat.2022.0063
Autor:
Nicole A Datson, Anchel González-Barriga, Eleni Kourkouta, Rudie Weij, Jeroen van de Giessen, Susan Mulders, Outi Kontkanen, Taneli Heikkinen, Kimmo Lehtimäki, Judith C T van Deutekom
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0171127 (2017)
The aim of these studies was to demonstrate the therapeutic capacity of an antisense oligonucleotide with the sequence (CUG)7 targeting the expanded CAG repeat in huntingtin (HTT) mRNA in vivo in the R6/2 N-terminal fragment and Q175 knock-in Hunting
Externí odkaz:
https://doaj.org/article/bca1853fe95b4f42b79763185181a38e
Autor:
Melissa Mulder, Ruurd C. Verheul, Judith C.T. van Deutekom, Bas Groenendaal, Nicole A. Datson, Eleni Kourkouta, Anchel González-Barriga, Sieto Bosgra, Jukka Puoliväli, Jussi Toivanen, Rudie Weij
Publikováno v:
Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 17, Iss, Pp 601-614 (2019)
Molecular Therapy: Nucleic Acids, Vol 17, Iss, Pp 601-614 (2019)
Spinocerebellar ataxia type 3 (SCA3) and type 1 (SCA1) are dominantly inherited neurodegenerative disorders that are currently incurable. Both diseases are caused by a CAG-repeat expansion in exon 10 of the Ataxin-3 and exon 8 of the Ataxin-1 gene, r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2740161afb59da439db1d3a3bb7b9c8
https://doi.org/10.1016/j.omtn.2019.07.004
https://doi.org/10.1016/j.omtn.2019.07.004
Autor:
Eleni Kourkouta, Maaike van Putten, Annemieke Aartsma-Rus, Toni Ahtoniemi, Yavuz Ariyurek, Chantal Beekman, Timo Bragge, Alper Yavas, Marlies Elisabeth Hoogenboom, Rudie Weij, Nicole A. Datson, Jeroen Knijnenburg, Jukka Puoliväli, Judith C.T. van Deutekom
Publikováno v:
PLoS ONE, 15(12). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 15, Iss 12, p e0244215 (2020)
PLoS ONE
PLoS ONE, Vol 15, Iss 12, p e0244215 (2020)
Duchenne muscular dystrophy (DMD) is a severe, progressive neuromuscular disorder caused by reading frame disrupting mutations in the DMD gene leading to absence of functional dystrophin. Antisense oligonucleotide (AON)-mediated exon skipping is a th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7764ad068b51e1bc78f949eac1a31f41
http://hdl.handle.net/1887/3184630
http://hdl.handle.net/1887/3184630
Autor:
Rani van den Eijnde, Jukka Puoliväli, Anneke A.M. Janson, Toni Ahtoniemi, Janwillem Testerink, Nicole A. Datson, Kimmo Lehtimäki, Suzanne Bijl, Judith C.T. van Deutekom, Rudie Weij, Timo Bragge
Publikováno v:
Nucleic Acid Therapeutics
Duchenne muscular dystrophy (DMD) is a severe childhood muscle disease primarily caused by the lack of functional dystrophin at the muscle fiber membranes. Multiple therapeutic approaches are currently in (pre)clinical development, aimed at restoring
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f2b225baf73b85e079edc2c98b361c
https://pubmed.ncbi.nlm.nih.gov/31821107
https://pubmed.ncbi.nlm.nih.gov/31821107
Autor:
Ingrid G.M. Kolfschoten, Ruurd C. Verheul, J.C.T. van Deutekom, P.C. de Visser, Rudie Weij, A. Baghat, M.M. Plug, J.A.M. Janson, R.E.Y. van den Eijnde
Publikováno v:
Neuromuscular Disorders. 24:820-821
Antisense oligonucleotides (AONs) for Duchenne muscular dystrophy (DMD) are designed to induce skipping of a single exon during pre-mRNA splicing, thus restoring the transcript’s open reading frame and consequently synthesis of the deficient dystro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f03f7b17ad2d57d1174f0ddba3b4e0cb
https://doi.org/10.1016/j.nmd.2014.06.101
https://doi.org/10.1016/j.nmd.2014.06.101
Autor:
J.C.T. van Deutekom, Nicole A. Datson, Rick Vermue, Janwillem Testerink, Anneke A.M. Janson, Rudie Weij, Suzanne Bijl
Publikováno v:
Neuromuscular Disorders. 25:S291
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73abe6650fb317dbbe22898b18883a39
https://doi.org/10.1016/j.nmd.2015.06.375
https://doi.org/10.1016/j.nmd.2015.06.375
Autor:
Annemieke Aartsma-Rus, Gert-Jan B. van Ommen, Rudie Weij, Wendy E. Kaman, Johan T. den Dunnen, Judith C.T. van Deutekom
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy. 14(3)
Through antisense-induced single-, double-, and multiexon skipping, we have previously demonstrated restoration of dystrophin expression in Duchenne muscular dystrophy (DMD) patient-derived muscle cells in vitro. In this study we further explored the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b5f22826b60dae87e401810c9f0d9f2
https://pubmed.ncbi.nlm.nih.gov/16753346
https://pubmed.ncbi.nlm.nih.gov/16753346