Search Results - "van Deutekom, Judith C.T"

Suppression of Mutant Protein Expression in SCA3 and SCA1 Mice Using a CAG Repeat-Targeting Antisense Oligonucleotide by Kourkouta, Eleni, Weij, Rudie, González-Barriga, Anchel, Mulder, Melissa, Verheul, Ruurd, Bosgra, Sieto, Groenendaal, Bas, Puoliväli, Jukka, Toivanen, Jussi, van Deutekom, Judith C.T., Datson, Nicole A.

“…Spinocerebellar ataxia type 3 (SCA3) and type 1 (SCA1) are dominantly inherited neurodegenerative disorders that are currently incurable. Both diseases are…”
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Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients by Aartsma-Rus, Annemieke, Janson, Anneke A.M., Kaman, Wendy E., Bremmer-Bout, Mattie, den Dunnen, Johan T., Baas, Frank, van Ommen, Gert-Jan B., van Deutekom, Judith C.T.

“…The dystrophin deficiency leading to the severely progressing muscle degeneration in Duchenne muscular dystrophy (DMD) patients is caused by frame-shifting…”
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Peptide conjugation of 2'-O-methyl phosphorothioate antisense oligonucleotides enhances cardiac uptake and exon skipping in mdx mice by Jirka, Silvana M G, Heemskerk, Hans, Tanganyika-de Winter, Christa L, Muilwijk, Daan, Pang, Kar Him, de Visser, Peter C, Janson, Anneke, Karnaoukh, Tatyana G, Vermue, Rick, 't Hoen, Peter A C, van Deutekom, Judith C T, Aguilera, Begoña, Aartsma-Rus, Annemieke

“…Antisense oligonucleotide (AON)-mediated exon skipping is a promising therapeutic approach for Duchenne muscular dystrophy that is currently being tested in…”
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Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells by van Deutekom, J C, Bremmer-Bout, M, Janson, A A, Ginjaar, I B, Baas, F, den Dunnen, J T, van Ommen, G J

“…Due to frame-shifting mutations in the DMD gene that cause dystrophin deficiency, Duchenne muscular dystrophy (DMD) patients suffer from lethal muscle…”
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Exploring the Frontiers of Therapeutic Exon Skipping for Duchenne Muscular Dystrophy by Double Targeting within One or Multiple Exons by Aartsma-Rus, Annemieke, Kaman, Wendy E, Weij, Rudie, den Dunnen, Johan T, van Ommen, Gert-Jan B, van Deutekom, Judith C T

“…Through antisense-induced single-, double-, and multiexon skipping, we have previously demonstrated restoration of dystrophin expression in Duchenne muscular…”
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Development of Approaches to Improve Cell Survival in Myoblast Transfer Therapy by Qu, Zhuqing, Balkir, Levent, Judith C. T. van Deutekom, Robbins, Paul D., Pruchnic, Ryan, Huard, Johnny

“…Myoblast transplantation has been extensively studied as a gene complementation approach for genetic diseases such as Duchenne Muscular Dystrophy. This…”
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Generation and Characterization of Transgenic Mice with the Full-length Human DMD Gene by 't Hoen, Peter A.C., de Meijer, Emile J., Boer, Judith M., Vossen, Rolf H.A.M., Turk, Rolf, Maatman, Ronald G.H.J., Davies, Kay E., van Ommen, Gert-Jan B., van Deutekom, Judith C.T., den Dunnen, Johan T.

“…We report the generation of mice with an intact and functional copy of the 2.3-megabase human dystrophin gene (hDMD), the largest functional stretch of human…”
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Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides by Bremmer-Bout, Mattie, Aartsma-Rus, Annemieke, de Meijer, Emile J, Kaman, Wendy E, Janson, Anneke A M, Vossen, Rolf H A M, van Ommen, Gert-Jan B, den Dunnen, Johan T, van Deutekom, Judith C T

“…The therapeutic potential of frame-restoring exon skipping by antisense oligonucleotides (AONs) has recently been demonstrated in cultured muscle cells from a…”
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Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy by Aartsma-Rus, Annemieke, Bremmer-Bout, Mattie, Janson, Anneke A.M, den Dunnen, Johan T, van Ommen, Gert-Jan B, van Deutekom, Judith C.T

“…Duchenne muscular dystrophy is primarily caused by frame-disrupting mutations in the Duchenne muscular dystrophy gene which abort dystrophin synthesis. We have…”
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Implications of maturation for viral gene delivery to skeletal muscle by van Deutekom, Judith C.T, Floyd, S.Steven, Booth, David K, Oligino, Thomas, Krisky, David, Marconi, Peggy, Glorioso, Joseph C, Huard, Johnny

“…Different viral vectors have been analyzed as gene delivery vehicles to skeletal muscle for potentially therapeutic purposes. In this review, we evaluate the…”
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Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule by Aartsma-Rus, Annemieke, Van Deutekom, Judith C. T., Fokkema, Ivo F., Van Ommen, Gert-Jan B., Den Dunnen, Johan T.

“…The severe Duchenne and milder Becker muscular dystrophy are both caused by mutations in the DMD gene. This gene codes for dystrophin, a protein important for…”
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The expanded CAG repeat in the huntingtin gene as target for therapeutic RNA modulation throughout the HD mouse brain by Datson, Nicole A, González-Barriga, Anchel, Kourkouta, Eleni, Weij, Rudie, van de Giessen, Jeroen, Mulders, Susan, Kontkanen, Outi, Heikkinen, Taneli, Lehtimäki, Kimmo, van Deutekom, Judith C T

“…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…”
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Digital Droplet PCR for the Absolute Quantification of Exon Skipping Induced by Antisense Oligonucleotides in (Pre-)Clinical Development for Duchenne Muscular Dystrophy by Verheul, Ruurd C, van Deutekom, Judith C T, Datson, Nicole A

“…Antisense oligonucleotides (AONs) in clinical development for Duchenne muscular dystrophy (DMD) aim to induce skipping of a specific exon of the dystrophin…”
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Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites by Aartsma-Rus, Annemieke, De Winter, Christa L, Janson, Anneke A M, Kaman, Wendy E, Van Ommen, Gert-Jan B, Den Dunnen, Johan T, Van Deutekom, Judith C T

“…As small molecule drugs for Duchenne muscular dystrophy (DMD), antisense oligonucleotides (AONs) have been shown to restore the disrupted reading frame of DMD…”
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Exonic sequences provide better targets for antisense oligonucleotides than splice site sequences in the modulation of Duchenne muscular dystrophy splicing by Aartsma-Rus, Annemieke, Houlleberghs, Hellen, van Deutekom, Judith C T, van Ommen, Gert-Jan B, 't Hoen, Peter A C

“…Antisense-mediated exon skipping is currently the most promising therapeutic approach for Duchenne muscular dystrophy (DMD). The rationale is to use antisense…”
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In vivo comparison of 2′-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping by Heemskerk, Hans A., de Winter, Christa L., de Kimpe, Sjef J., van Kuik-Romeijn, Petra, Heuvelmans, Niki, Platenburg, Gerard J., van Ommen, Gert-Jan B., van Deutekom, Judith C. T., Aartsma-Rus, Annemieke

“…Background Antisense‐mediated exon skipping is a putative treatment for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs), the…”
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Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms by Aartsma-Rus, Annemieke, van Vliet, Laura, Hirschi, Marscha, Janson, Anneke AM, Heemskerk, Hans, de Winter, Christa L, de Kimpe, Sjef, van Deutekom, Judith CT, 't Hoen, Peter AC, van Ommen, Gert-Jan B

“…Antisense oligonucleotides (AONs) can interfere with mRNA processing through RNase H–mediated degradation, translational arrest, or modulation of splicing. The…”
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Targeting several CAG expansion diseases by a single antisense oligonucleotide by Evers, Melvin M, Pepers, Barry A, van Deutekom, Judith C T, Mulders, Susan A M, den Dunnen, Johan T, Aartsma-Rus, Annemieke, van Ommen, Gert-Jan B, van Roon-Mom, Willeke M C

“…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…”
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Intracellular Distribution and Nuclear Activity of Antisense Oligonucleotides After Unassisted Uptake in Myoblasts and Differentiated Myotubes In Vitro by González-Barriga, Anchel, Nillessen, Bram, Kranzen, Julia, van Kessel, Ingeborg D G, Croes, Huib J E, Aguilera, Begoña, de Visser, Peter C, Datson, Nicole A, Mulders, Susan A M, van Deutekom, Judith C T, Wieringa, Bé, Wansink, Derick G

“…Clinical efficacy of antisense oligonucleotides (AONs) for the treatment of neuromuscular disorders depends on efficient cellular uptake and proper…”
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Advances in Duchenne muscular dystrophy gene therapy by van Deutekom, Judith C. T, van Ommen, Gert-Jan B

“…Since the initial characterization of the genetic defect for Duchenne muscular dystrophy, much effort has been expended in attempts to develop a therapy for…”
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