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Choroideremia: molecular mechanisms and development of AAV gene therapy

Abstract:

Introduction: Choroideremia is an X-linked inherited retinal degeneration that causes blindness in afflicted males by middle age. The causative gene, CHM, plays a key role in intracellular trafficking pathways, and its disruption impairs cell homeostasis.

Areas covered: The mechanism by which mutations in CHM cause choroideremia is still under debate. Here we describe the molecular defects in choroideremia cells regarding both the deficiency of pren...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1080/14712598.2018.1484448

Authors


More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
Royal College of Surgeons of Edinburgh More from this funder
Nightstar Therapeutics More from this funder
Publisher:
Taylor and Francis Publisher's website
Journal:
Expert opinion on biological therapy Journal website
Volume:
18
Issue:
7
Pages:
807-820
Publication date:
2018-06-22
Acceptance date:
2018-05-31
DOI:
EISSN:
1744-7682
ISSN:
1471-2598
Pubs id:
pubs:859160
URN:
uri:e97c9fdc-0529-4feb-8f49-8ae20ad2ebc3
UUID:
uuid:e97c9fdc-0529-4feb-8f49-8ae20ad2ebc3
Local pid:
pubs:859160

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