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Review Series

Genetic repair

Series edited by Bruce Sullenger

This series examines the inspired techniques utilized in targeted gene repair for the simple correction of genetic defects and the hurdles that must be overcome in order to make clinical use of molecular therapeutics in the treatment of diseases such as cystic fibrosis, hemophilia, sickle cell anemia, muscular dystrophy, and ß-thalassemia.

Articles in series

Genetic repair. Bruce A. Sullenger, Series Editor
Targeted genetic repair: an emerging approach to genetic therapy
Bruce A. Sullenger
Bruce A. Sullenger
Published August 1, 2003
Citation Information: J Clin Invest. 2003;112(3):310-311. https://doi.org/10.1172/JCI19419.
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Genetic repair. Bruce A. Sullenger, Series Editor
Targeted genetic repair: an emerging approach to genetic therapy

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Abstract

Authors

Bruce A. Sullenger

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Genetic repair. Bruce A. Sullenger, Series Editor
Ribozyme-mediated revision of RNA and DNA
Meredith B. Long, … , Bruce A. Sullenger, Jonghoe Byun
Meredith B. Long, … , Bruce A. Sullenger, Jonghoe Byun
Published August 1, 2003
Citation Information: J Clin Invest. 2003;112(3):312-318. https://doi.org/10.1172/JCI19386.
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Genetic repair. Bruce A. Sullenger, Series Editor
Ribozyme-mediated revision of RNA and DNA

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Abstract

Authors

Meredith B. Long, J.P. Jones III, Bruce A. Sullenger, Jonghoe Byun

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Messenger RNA reprogramming by spliceosome-mediated RNA trans-splicing
Mariano A. Garcia-Blanco
Mariano A. Garcia-Blanco
Published August 15, 2003
Citation Information: J Clin Invest. 2003;112(4):474-480. https://doi.org/10.1172/JCI19462.
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Messenger RNA reprogramming by spliceosome-mediated RNA trans-splicing

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Abstract

In the human genome, the majority of protein-encoding genes are interrupted by introns, which are removed from primary transcripts by a macromolecular enzyme known as the spliceosome. Spliceosomes can constitutively remove all the introns in a primary transcript to yield a fully spliced mRNA or alternatively splice primary transcripts leading to the production of many different mRNAs from one gene. This review examines how spliceosomes can recombine two primary transcripts in trans to reprogram messenger RNAs.

Authors

Mariano A. Garcia-Blanco

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Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing
Peter Sazani, Ryszard Kole
Peter Sazani, Ryszard Kole
Published August 15, 2003
Citation Information: J Clin Invest. 2003;112(4):481-486. https://doi.org/10.1172/JCI19547.
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Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing

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Abstract

An estimated 60% of all human genes undergo alternative splicing, a highly regulated process that produces splice variants with different functions. Such variants have been linked to a variety of cancers, and genetic diseases such as thalassemia and cystic fibrosis. This Perspective describes a promising approach to RNA repair based on the use of antisense oligonucleotides to modulate alternative splicing and engender the production of therapeutic gene products.

Authors

Peter Sazani, Ryszard Kole

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The potential for gene repair via triple helix formation
Michael M. Seidman, Peter M. Glazer
Michael M. Seidman, Peter M. Glazer
Published August 15, 2003
Citation Information: J Clin Invest. 2003;112(4):487-494. https://doi.org/10.1172/JCI19552.
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The potential for gene repair via triple helix formation

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Abstract

Triplex-forming oligonucleotides (TFOs) can bind to polypurine/polypyrimidine regions in DNA in a sequence-specific manner. The specificity of this binding raises the possibility of using triplex formation for directed genome modification, with the ultimate goal of repairing genetic defects in human cells. Several studies have demonstrated that treatment of mammalian cells with TFOs can provoke DNA repair and recombination, in a manner that can be exploited to introduce desired sequence changes. This review will summarize recent advances in this field while also highlighting major obstacles that remain to be overcome before the application of triplex technology to therapeutic gene repair can be achieved.

Authors

Michael M. Seidman, Peter M. Glazer

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Targeted gene repair – in the arena
Eric B. Kmiec
Eric B. Kmiec
Published September 1, 2003
Citation Information: J Clin Invest. 2003;112(5):632-636. https://doi.org/10.1172/JCI19777.
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Targeted gene repair – in the arena

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Abstract

The development of targeted gene repair is under way and, despite some setbacks, shows promise as an alternative form of gene therapy. This approach uses synthetic DNA molecules to activate and direct the cell’s inherent DNA repair systems to correct inborn errors. The progress of this technique and its therapeutic potential are discussed in relation to the treatment of genetic diseases.

Authors

Eric B. Kmiec

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Sequence-specific modification of genomic DNA by small DNA fragments
Dieter C. Gruenert, … , Federica Sangiuolo, Kaarin K. Goncz
Dieter C. Gruenert, … , Federica Sangiuolo, Kaarin K. Goncz
Published September 1, 2003
Citation Information: J Clin Invest. 2003;112(5):637-641. https://doi.org/10.1172/JCI19773.
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Sequence-specific modification of genomic DNA by small DNA fragments

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Abstract

Small DNA fragments have been used to modify endogenous genomic DNA in both human and mouse cells. This strategy for sequence-specific modification or genomic editing, known as small-fragment homologous replacement (SFHR), has yet to be characterized in terms of its underlying mechanisms. Genotypic and phenotypic analyses following SFHR have shown specific modification of disease-causing genetic loci associated with cystic fibrosis, β-thalassemia, and Duchenne muscular dystrophy, suggesting that SFHR has potential as a therapeutic modality for the treatment of monogenic inherited disease.

Authors

Dieter C. Gruenert, Emanuela Bruscia, Giuseppe Novelli, Alessia Colosimo, Bruno Dallapiccola, Federica Sangiuolo, Kaarin K. Goncz

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