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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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Publisher copy:
10.1016/j.ymthe.2017.04.025

Authors


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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
Publisher:
Elsevier Publisher's website
Journal:
20th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT 2017) Journal website
Host title:
20th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT 2017)
Publication date:
2017-05-04
Acceptance date:
2017-03-28
DOI:
Source identifiers:
719422
Pubs id:
pubs:719422
UUID:
uuid:b630304c-e84a-44d1-b0a3-3960111449bb
Local pid:
pubs:719422
Deposit date:
2018-05-08

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