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Journal article

Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo.

Abstract:

Choroideremia (CHM) is an X-linked retinal degeneration of photoreceptors, the retinal pigment epithelium (RPE) and choroid caused by loss of function mutations in the CHM/REP1 gene that encodes Rab escort protein 1. As a slowly progressing monogenic retinal degeneration with a clearly identifiable phenotype and a reliable diagnosis, CHM is an ideal candidate for gene therapy. We developed a serotype 2 adeno-associated viral vector AAV2/2-CBA-REP1, which expresses REP1 under control of CMV-en...

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Publication status:
Published

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Publisher copy:
10.1007/s00109-013-1006-4

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford
Role:
Author
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Journal:
Journal of molecular medicine (Berlin, Germany)
Volume:
91
Issue:
7
Pages:
825-837
Publication date:
2013-07-05
DOI:
EISSN:
1432-1440
ISSN:
0946-2716
URN:
uuid:943c9efa-11dc-47aa-aaa3-79970e6f4bea
Source identifiers:
401935
Local pid:
pubs:401935

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