Literature DB >> 19809477

Progress in therapeutic antisense applications for neuromuscular disorders.

Annemieke Aartsma-Rus1, Gert-Jan B van Ommen.   

Abstract

Neuromuscular disorders are a frequent cause of chronic disability in man. They often result from mutations in single genes and are thus, in principle, well suited for gene therapy. However, the tissues involved (muscle and the central nervous system) are post-mitotic, which poses a challenge for most viral vectors. In some cases, alternative approaches may use small molecules, for example, antisense oligonucleotides (AONs). These do not deliver a new gene, but rather modulate existing gene products or alter the utilization of pathways. For Duchenne muscular dystrophy, this approach is in early phase clinical trials, and for two other common neuromuscular disorders (spinal muscular atrophy and myotonic dystrophy), significant preclinical advances have recently been made.

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Year:  2009        PMID: 19809477      PMCID: PMC2987179          DOI: 10.1038/ejhg.2009.160

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  98 in total

1.  In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes.

Authors:  Natalia N Singh; Elliot J Androphy; Ravindra N Singh
Journal:  RNA       Date:  2004-08       Impact factor: 4.942

2.  Dystrophin: the protein product of the Duchenne muscular dystrophy locus.

Authors:  E P Hoffman; R H Brown; L M Kunkel
Journal:  Cell       Date:  1987-12-24       Impact factor: 41.582

3.  Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense.

Authors:  Annemieke Aartsma-Rus; Anneke A M Janson; Wendy E Kaman; Mattie Bremmer-Bout; Gert-Jan B van Ommen; Johan T den Dunnen; Judith C T van Deutekom
Journal:  Am J Hum Genet       Date:  2003-12-16       Impact factor: 11.025

4.  Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

Authors:  Charlotte J Sumner; Thanh N Huynh; Jennifer A Markowitz; J Stephen Perhac; Brenna Hill; Daniel D Coovert; Kristie Schussler; Xiaocun Chen; Jill Jarecki; Arthur H M Burghes; J Paul Taylor; Kenneth H Fischbeck
Journal:  Ann Neurol       Date:  2003-11       Impact factor: 10.422

5.  Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon.

Authors:  Agus Surono; Tran Van Khanh; Yasuhiro Takeshima; Hiroko Wada; Mariko Yagi; Miho Takagi; Makoto Koizumi; Masafumi Matsuo
Journal:  Hum Gene Ther       Date:  2004-08       Impact factor: 5.695

6.  Insulin receptor splicing alteration in myotonic dystrophy type 2.

Authors:  R S Savkur; A V Philips; T A Cooper; J C Dalton; M L Moseley; L P W Ranum; J W Day
Journal:  Am J Hum Genet       Date:  2004-04-26       Impact factor: 11.025

7.  A muscleblind knockout model for myotonic dystrophy.

Authors:  Rahul N Kanadia; Karen A Johnstone; Ami Mankodi; Codrin Lungu; Charles A Thornton; Douglas Esson; Adrian M Timmers; William W Hauswirth; Maurice S Swanson
Journal:  Science       Date:  2003-12-12       Impact factor: 47.728

8.  An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy.

Authors:  Natalia N Singh; Elliot J Androphy; Ravindra N Singh
Journal:  Biochem Biophys Res Commun       Date:  2004-03-05       Impact factor: 3.575

9.  Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.

Authors:  E P Hoffman; K H Fischbeck; R H Brown; M Johnson; R Medori; J D Loike; J B Harris; R Waterston; M Brooke; L Specht
Journal:  N Engl J Med       Date:  1988-05-26       Impact factor: 91.245

10.  An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Authors:  A P Monaco; C J Bertelson; S Liechti-Gallati; H Moser; L M Kunkel
Journal:  Genomics       Date:  1988-01       Impact factor: 5.736

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  17 in total

1.  Therapeutic exon 'switching' for dysferlinopathies?

Authors:  Nicolas Lévy; Nicolas Wein; Florian Barthelemy; Vincent Mouly; Luis Garcia; Martin Krahn; Marc Bartoli
Journal:  Eur J Hum Genet       Date:  2010-05-26       Impact factor: 4.246

2.  Expression of dog microdystrophin in mouse and dog muscles by gene therapy.

Authors:  Christophe Pichavant; Pierre Chapdelaine; Daniel G Cerri; Jean-Christophe Dominique; Simon P Quenneville; Daniel Skuk; Joe N Kornegay; João Cs Bizario; Xiao Xiao; Jacques P Tremblay
Journal:  Mol Ther       Date:  2010-02-23       Impact factor: 11.454

3.  Mechanisms of antisense transcription initiation from the 3' end of the GAL10 coding sequence in vivo.

Authors:  Shivani Malik; Geetha Durairaj; Sukesh R Bhaumik
Journal:  Mol Cell Biol       Date:  2013-07-08       Impact factor: 4.272

4.  Discovery, synthesis, and biological evaluation of novel SMN protein modulators.

Authors:  Jingbo Xiao; Juan J Marugan; Wei Zheng; Steve Titus; Noel Southall; Jonathan J Cherry; Matthew Evans; Elliot J Androphy; Christopher P Austin
Journal:  J Med Chem       Date:  2011-08-19       Impact factor: 7.446

5.  RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.

Authors:  Mario Tosi; Stefan Stamm; Diana Baralle
Journal:  Eur J Hum Genet       Date:  2010-02-24       Impact factor: 4.246

Review 6.  Therapeutics development in myotonic dystrophy type 1.

Authors:  Erin Pennock Foff; Mani S Mahadevan
Journal:  Muscle Nerve       Date:  2011-05-23       Impact factor: 3.217

7.  Electrical impedance myography for the in vivo and ex vivo assessment of muscular dystrophy (mdx) mouse muscle.

Authors:  Jia Li; Tom R Geisbush; Glenn D Rosen; Jennifer Lachey; Aaron Mulivor; Seward B Rutkove
Journal:  Muscle Nerve       Date:  2014-06       Impact factor: 3.217

8.  Therapeutic developments in spinal muscular atrophy.

Authors:  Douglas M Sproule; Petra Kaufmann
Journal:  Ther Adv Neurol Disord       Date:  2010-05       Impact factor: 6.570

9.  Therapy development in spinal muscular atrophy.

Authors:  Michael Sendtner
Journal:  Nat Neurosci       Date:  2010-07       Impact factor: 24.884

10.  Physiological and druggable skipping of immunoglobulin variable exons in plasma cells.

Authors:  Mohamad Omar Ashi; Nivine Srour; Jean-Marie Lambert; Anne Marchalot; Ophélie Martin; Sandrine Le Noir; Eric Pinaud; Maria Victoria Ayala; Christophe Sirac; Jérôme Saulière; Jérôme Moreaux; Michel Cogné; Laurent Delpy
Journal:  Cell Mol Immunol       Date:  2018-08-20       Impact factor: 11.530

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