Sustainable correction of junctional epidermolysis bullosa via transposon‐mediated nonviral gene transfer

Ortiz-Urda, S; Lin, Q; Yant, S R; Keene, D; Kay, M A; Khavari, P A

doi:10.1038/sj.gt.3301978

Cited by 118Skin and Cellular Biology ResearchVirus-based gene therapy researchAnimal Genetics and Reproduction

The DOI matches its Crossref record; 32 of the 33 references it cites were found in a registry or an index.

Sustainable correction of junctional epidermolysis bullosa via transposon‐mediated nonviral gene transfer

Ortiz-Urda, S, Lin, Q, Yant, S R, Keene, D, Kay, M A, Khavari, P A·2003·Gene Therapy

DOI 10.1038/sj.gt.3301978

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Abstract

Sustainable correction of severe human genetic disorders of self-renewing tissues, such as the blistering skin disease junctional epidermolysis bullosa (JEB), is facilitated by stable genomic integration of therapeutic genes into somatic tissue stem cells. While integrating viral vectors can achieve this, they suffer from logistical and biosafety concerns. To circumvent these limitations, we used the Sleeping Beauty transposable element to integrate the LAMB3 cDNA into genomes of epidermal holoclones from six unrelated JEB patients. These cells regenerate human JEB skin that is normalized at the level of laminin 5 protein expression, hemidesmosome formation and blistering. Transposon-mediated gene delivery therefore affords an opportunity for stable gene delivery in JEB and other human diseases.

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Authors: Ortiz-Urda, S., Lin, Q., Yant, S. R., Keene, D., Kay, M. A., & Khavari, P. A.
Affiliations: VA Palo Alto Health Care System (US)
Shriners Hospitals for Children - Portland (US)
Stanford Medicine (US)
ORCID: Lin, Q
Yant, S R
Keene, D
Kay, M A
Khavari, P A
Venue: Gene Therapy
Publisher: Springer Science and Business Media LLC
Published: 2003-06-16
Volume: 10
Issue: 13
Pages: 1099-1104
ISSN: 0969-7128 (ISSN-L)
1476-5462
DOI: 10.1038/sj.gt.3301978
OpenAlex: W2117888324
Cited by: 118
References: 33
Citations by year: 2020: 3 · 2019: 2 · 2017: 8 · 2016: 3 · 2015: 9 · 2014: 5 · 2013: 4 · 2012: 7
FWCI: 4.62
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Gene Therapy (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Animal Genetics and Reproduction
Keywords: junctional epidermolysis bullosa, Sleeping Beauty transposon, nonviral gene transfer, LAMB3, laminin-5, epidermal stem cells, skin regeneration, blistering skin disease
MeSH terms: Kalinin, Animals, Desmosomes, DNA Transposable Elements, Humans, Regeneration, Skin, Stem Cells, Genetic Therapy, Cell Adhesion Molecules, Epidermolysis Bullosa, Junctional, Microscopy, Immunoelectron, Mice, SCID, Mice

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Sustainable correction of junctional epidermolysis bullosa via transposon‐mediated nonviral gene transfer

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