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Prenylation of rab6a as a potency assay for choroideremia gene therapy

Abstract:

Choroideremia (CHM) is a rare, X-linked recessive retinal dystrophy caused by mutations in the CHM gene. This gene encodes for Rab escort protein 1 (REP1), which is ubiquitously expressed in human cells and plays a key role in intracellular trafficking through the prenylation of RabGTPases. Deficiency of REP1 prevents Rab proteins of being prenylated and delivered to the target membrane, causing cellular dysfunction and ultimately cell death. As the use of adeno-associated viral (AAV) vectors...

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Publication status:
Published
Peer review status:
Peer reviewed

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences; Biomedical Research Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences; Biomedical Research Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences; Biomedical Research Centre
Oxford college:
Merton College
Role:
Author
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Name:
National Institute for Health Research
Grant:
NF-SI-0515-10047
Publisher:
Elsevier
Host title:
20th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT 2017)
Journal:
20th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT 2017) More from this journal
Publication date:
2017-05-04
Acceptance date:
2017-03-28
DOI:
Pubs id:
pubs:719422
UUID:
uuid:b630304c-e84a-44d1-b0a3-3960111449bb
Local pid:
pubs:719422
Source identifiers:
719422
Deposit date:
2018-05-08

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