Judith C T van Deutekom

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. ncbi request reprint Large-scale gene expression analysis of human skeletal myoblast differentiation
    Ellen Sterrenburg
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Neuromuscul Disord 14:507-18. 2004
  2. ncbi request reprint Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells
    J C van Deutekom
    Department of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Hum Mol Genet 10:1547-54. 2001
  3. ncbi request reprint Advances in Duchenne muscular dystrophy gene therapy
    Judith C T van Deutekom
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Nat Rev Genet 4:774-83. 2003
  4. ncbi request reprint Gene therapy: the 'pro-sense' approach to Duchenne muscular dystrophy
    Judith C T van Deutekom
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Eur J Hum Genet 13:518-9. 2005
  5. ncbi request reprint Generation and characterization of transgenic mice with the full-length human DMD gene
    Peter A C 't Hoen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Postal Zone S4 P, PO Box 9600, 2300 RC Leiden, The Netherlands
    J Biol Chem 283:5899-907. 2008
  6. pmc Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
    Annemieke Aartsma-Rus
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Med Genet 8:43. 2007
  7. ncbi request reprint Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophy
    Peter A C 't Hoen
    Leiden University Medical Center, Center for Human and Clinical Genetics, Room S 04 003, Postbus 9600, 2300 RC Leiden, The Netherlands
    Pharmacogenomics 7:281-97. 2006
  8. ncbi request reprint Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides
    Mattie Bremmer-Bout
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Mol Ther 10:232-40. 2004
  9. ncbi request reprint Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons
    Annemieke Aartsma-Rus
    DMD Genetic Therapy Group, Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands
    Mol Ther 14:401-7. 2006
  10. pmc Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense
    Annemieke Aartsma-Rus
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Hum Genet 74:83-92. 2004

Collaborators

Detail Information

Publications23

  1. ncbi request reprint Large-scale gene expression analysis of human skeletal myoblast differentiation
    Ellen Sterrenburg
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Neuromuscul Disord 14:507-18. 2004
    ..Further study of these genes can bring new insights into the process of muscle differentiation, and they are candidate genes for neuromuscular disorders with an as yet unidentified cause...
  2. ncbi request reprint Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells
    J C van Deutekom
    Department of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Hum Mol Genet 10:1547-54. 2001
    ..This strategy may be applicable to not only >65% of DMD mutations, but also many other genetic diseases...
  3. ncbi request reprint Advances in Duchenne muscular dystrophy gene therapy
    Judith C T van Deutekom
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Nat Rev Genet 4:774-83. 2003
    ..However, our increasing knowledge of the organization of the gene and the role of dystrophin in muscle function has indicated ways to manipulate them both. Gene therapy for Duchenne muscular dystrophy now seems to be in reach...
  4. ncbi request reprint Gene therapy: the 'pro-sense' approach to Duchenne muscular dystrophy
    Judith C T van Deutekom
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Eur J Hum Genet 13:518-9. 2005
  5. ncbi request reprint Generation and characterization of transgenic mice with the full-length human DMD gene
    Peter A C 't Hoen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Postal Zone S4 P, PO Box 9600, 2300 RC Leiden, The Netherlands
    J Biol Chem 283:5899-907. 2008
    ..In addition, the hDMD mouse can be used to study the influence of the genomic context on deletion and recombination frequencies, genome stability, and gene expression regulation...
  6. pmc Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
    Annemieke Aartsma-Rus
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Med Genet 8:43. 2007
    ..These mutations are in principle ideal targets for this approach since the specific skipping of duplicated exons would generate original, full-length transcripts...
  7. ncbi request reprint Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophy
    Peter A C 't Hoen
    Leiden University Medical Center, Center for Human and Clinical Genetics, Room S 04 003, Postbus 9600, 2300 RC Leiden, The Netherlands
    Pharmacogenomics 7:281-97. 2006
    ....
  8. ncbi request reprint Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides
    Mattie Bremmer-Bout
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Mol Ther 10:232-40. 2004
    ..These data highlight the high sequence specificity of this therapy and present the hDMD mouse as a unique model to optimize human-specific exon skipping in vivo...
  9. ncbi request reprint Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons
    Annemieke Aartsma-Rus
    DMD Genetic Therapy Group, Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands
    Mol Ther 14:401-7. 2006
    ..We aimed at inducing larger multiexon-skipping stretches, such as exons 17-51, exons 42-55, and exons 45-59. However, this appeared complicated and may be dependent on cotranscriptional splicing and the size of the flanking introns...
  10. pmc Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense
    Annemieke Aartsma-Rus
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Hum Genet 74:83-92. 2004
    ..In fact, we here demonstrate its feasibility in myotubes from a patient with an exon 48-50 deletion. The application of multiexon skipping may provide a more uniform methodology for a larger group of patients with DMD...
  11. doi request reprint In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping
    Hans A Heemskerk
    DMD Genetic Therapy Group, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    J Gene Med 11:257-66. 2009
    ..In vivo studies are mainly performed using 2'-O-methyl phosphorothioate (2OMePS) or morpholino (PMO) AONs. These compounds were never directly compared...
  12. ncbi request reprint Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients
    Annemieke Aartsma-Rus
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Hum Mol Genet 12:907-14. 2003
    ..These results document important progress towards a clinically applicable, small-molecule based therapy...
  13. pmc Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model
    Hans Heemskerk
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Mol Ther 18:1210-7. 2010
    ..c. administration, we selected this patient-convenient delivery method for future clinical study protocols...
  14. ncbi request reprint Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites
    Annemieke Aartsma-Rus
    Leiden University Medical Center, Center for Human and Clinical Genetics, 2333 AL Leiden, The Netherlands
    Oligonucleotides 15:284-97. 2005
    ..Our results suggest that effective exon-internal AONs primarily act by blocking SR binding sites (which often correspond to open structures) and that ESEfinder may be used to refine AON design for DMD and other genes...
  15. doi request reprint Exonic sequences provide better targets for antisense oligonucleotides than splice site sequences in the modulation of Duchenne muscular dystrophy splicing
    Annemieke Aartsma-Rus
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Oligonucleotides 20:69-77. 2010
    ..This suggests that exons may be better AON targets than introns per se, because of their higher GC content, which generally will result in improved AON binding...
  16. pmc Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms
    Annemieke Aartsma-Rus
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Mol Ther 17:548-53. 2009
    ..On the basis of only four parameters, we could correctly classify 79% of all AONs as effective or ineffective, suggesting these parameters can be used to more optimally design splice-modulating AONs...
  17. pmc Prednisolone treatment does not interfere with 2'-O-methyl phosphorothioate antisense-mediated exon skipping in Duchenne muscular dystrophy
    Ingrid E C Verhaart
    Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    Hum Gene Ther 23:262-73. 2012
    ..Overall these results show that the use of prednisone forms no barrier to participation in clinical trials with AONs...
  18. doi request reprint Antisense-mediated exon skipping to correct IL-12Rbeta1 deficiency in T cells
    Esther van de Vosse
    Department of Infectious Diseases, Leiden University Medical Center, Leiden, The Netherlands
    Blood 113:4548-55. 2009
    ..We demonstrated that T cells can be highly efficiently transduced with AONs and are amenable to antisense-mediated exon skipping. Furthermore, we showed that exon skipping (partly) corrects the IL-12Rbeta1 deficiency in patients' cells...
  19. ncbi request reprint Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule
    Annemieke Aartsma-Rus
    Leiden University Medical Center, Department of Human Genetics, P O Box 9600, 2300 RC Leiden, The Netherlands
    Muscle Nerve 34:135-44. 2006
    ..In this study we provide an update of the mutational variability in the DMD gene, particularly focusing on genotype-phenotype correlations and mutations that appear to be exceptions to the reading-frame rule...
  20. ncbi request reprint Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy
    Annemieke Aartsma-Rus
    Department of Human Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Neuromuscul Disord 12:S71-7. 2002
    ..Accordingly, these antisense oligoribonucleotides would allow correction of over 50% of deletions and 22% of duplications reported in the Leiden DMD-mutation Database...
  21. doi request reprint Dose-dependent pharmacokinetic profiles of 2'-O-methyl phosphorothioate antisense oligonucleotidesin mdx mice
    Ingrid E C Verhaart
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Nucleic Acid Ther 23:228-37. 2013
    ..These studies underline the importance of balancing optimal AON efficacy and tolerable levels in non-target organs, which may be fine-tuned by further optimization of AON treatment regimens...
  22. pmc Targeting several CAG expansion diseases by a single antisense oligonucleotide
    Melvin M Evers
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    PLoS ONE 6:e24308. 2011
    ....
  23. pmc Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy
    Laura Van Vliet
    DMD Genetic Therapy Group, Department of Human Genetics, Leiden University, Medical Center, Postzone S4 P, PO Box 9600, 2300RC, Leiden, The Netherlands
    BMC Med Genet 9:105. 2008
    ..The levels of intended multiexon skips are typically low and highly variable, and may be dependent on the order of intron removal. We hypothesized that the splicing order might favor the induction of multiexon 45-55 skipping...