Assessment of the feasibility of exon 45-55 multiexon skipping for duchenne muscular dystrophy

BMC Medical Genetics

Volumn 9, Issue , 2008, Pages

  van Vliet, Laura ^a   de Winter, Christa L ^a   van Deutekom, Judith C T ^b   van Ommen, Gert Jan B ^a   Aartsma Rus, Annemieke ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Prosensa BV   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE;

ALTERNATIVE RNA SPLICING; ARTICLE; CONTROLLED STUDY; DRUG MECHANISM; DRUG RESEARCH; DRUG TARGETING; DUCHENNE MUSCULAR DYSTROPHY; EXON; FEASIBILITY STUDY; GENE FREQUENCY; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; INTRON; MUSCLE CELL; MYOTUBE; CELL CULTURE; CELL DIFFERENTIATION; GENE DELETION; GENE THERAPY; GENETICS; MYOBLAST; OPEN READING FRAME; PATHOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; WESTERN BLOTTING;

BLOTTING, WESTERN; CELL DIFFERENTIATION; CELLS, CULTURED; EXONS; GENE THERAPY; HUMANS; MUSCLE FIBERS, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; MYOBLASTS, SKELETAL; OLIGONUCLEOTIDES, ANTISENSE; OPEN READING FRAMES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 58149350004     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-105     Document Type: Article

References (19)

1. van Deutekom JC Janson AA Ginjaar IB Frankhuizen WS Aartsma-Rus A Bremmer-Bout M Local dystrophin restoration with antisense oligonucleotide PRO051 N Engl J Med 2007, 357:2677-2686 10.1056/ NEJMoa073108 18160687
2. Aartsma-Rus A van Ommen GJ Antisense-mediated exon skipping: A versatile tool with therapeutic and research applications RNA 2007, 13:1609-1624 1986821 17684229 10.1261/rna.653607
3. Aartsma-Rus A Janson AA Kaman WE Bremmer-Bout M den Dunnen JT Baas F Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients Hum Mol Genet 2003, 12:907-14 10.1093/ hmg/ddg100 12668614
4. Aartsma-Rus A Janson AA Kaman WE Bremmer-Bout M van Ommen GJ den Dunnen JT Antisense-induced multiexon skipping for duchenne muscular dystrophy makes more sense Am J Hum Genet 2004, 74:83-92 1181915 14681829 10.1086/ 381039
5. Aartsma-Rus A Janson AA van Ommen GJ van Deutekom JC Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy BMC Med Genet 2007, 8:43 1931584 17612397 10.1186/1471-2350-8-43
6. Lu QL Mann CJ Lou F Bou-Gharios G Morris GE Xue SA et al. Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse Nat Med 2003, 8:1009-1014 10.1038/nm897 12847521
7. Lu QL Rabinowitz A Chen YC Yokota T Yin H Alter J et al. Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles Proc Natl Acad Sci USA 2005, 102:198-203 544058 15608067 10.1073/pnas.0406700102
8. Takeshima Y Wada H Yagi M Ishikawa Y Minami R Nakamura H et al. Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient Brain Dev 2001, 23:788-90 10.1016/S0387-7604(01)00326-6 11720794
9. van Deutekom JC Bremmer-Bout M Janson AA Ginjaar IB Baas F den Dunnen JT Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells Hum Mol Genet 2001, 10:1547-54 10.1093/hmg/ 10.15.1547 11468272
10. van Deutekom JC van Ommen GJ Advances in Duchenne muscular dystrophy gene therapy Nat Rev Genet 2003, 4:774-83 10.1038/nrg1180 14526374
11. Aartsma-Rus A van Deutekom JC Fokkema IF van Ommen GJ den Dunnen JT Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule Muscle Nerve 2006, 34:135-144 10.1002/mus.20586 16770791
12. Aartsma-Rus A van Deutekom JC Antisense-Mediated Reading-Frame Restoration as a Genetic Therapy for Duchenne Muscular Dystrophy Antisense Elements (Genetics) Research Focus Novapublishers Hernandes AG 2007
13. Beroud C Tuffery-Giraud S Matsuo M Hamroun D Humbertclaude V Monnier N et al. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy Hum Mutat 2007, 28:196-202 10.1002/ humu.20428 17041910
14. Aartsma-Rus A Kaman WE Weij R den Dunnen JT van Ommen GJ van Deutekom JC Exploring the Frontiers of Therapeutic Exon Skipping for Duchenne Muscular Dystrophy by Double Targeting within One or Multiple Exons Mol Ther 2006, 14:401-407 10.1016/j.ymthe.2006.02.022 16753346
15. Fall AM Johnsen R Honeyman K Iversen P Fletcher S Wilton SD Induction of revertant fibres in the mdx mouse using antisense oligonucleotides Genet Vaccines Ther 2006, 4:3 1481566 16719929 10.1186/1479-0556-4-3
16. Tennyson CN Klamut HJ Worton RG The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced Nat Genet 1995, 9:184-90 10.1038/ng0295-184 7719347
17. Aartsma-Rus A Bremmer-Bout M Janson A Den Dunnen J van Ommen G van Deutekom J Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy Neuromuscul Disord 2002, 12:S71-S77 10.1016/S0960-8966(02)00086-X 12206800
18. Aartsma-Rus A Winter CL Janson AAM Kaman WE van Ommen GJ den Dunnen JT et al. Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: Indication for steric hindrance of SR protein binding sites Oligonucleotides 2005, 15:284-297 10.1089/oli.2005.15.284 16396622
19. Aartsma-Rus A Kaman WE Bremmer-Bout M Janson A Den Dunnen J van Ommen GJ et al. Comparative analysis of antisense oligonucleotide analogs for tageted DMD exon 46 skipping in muscle cells Gene Therapy 2004, 11:1391-1398 10.1038/sj.gt.3302313 15229633