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Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes

Abstract:

Gaucher disease is caused by mutations in the GBA gene, which encodes for the lysosomal enzyme β-glucocerebrosidase (GCase), resulting in the accumulation of storage material in visceral organs and in some cases the brain of affected patients. While there is a commercially available treatment for the systemic manifestations, neuropathology still remains untreatable. We previously demonstrated that gene therapy represents a feasible therapeutic tool for the treatment of the neuronopathic forms...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/hmg/ddz317

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Oxford college:
Merton College
Role:
Author
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Oxford college:
Merton College
Role:
Author
More by this author
Oxford college:
Merton College
Role:
Author
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Institution:
University of Oxford
Division:
MSD
Department:
Pharmacology
Role:
Author
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Name:
Royal Society
Grant:
WM130016
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Name:
Wellcome Trust
Grant:
202834/Z/16/Z
More from this funder
Name:
Medical Research Council
Grant:
533583
Publisher:
Oxford University Press
Journal:
Human Molecular Genetics More from this journal
Volume:
29
Issue:
12
Pages:
1933–1949
Publication date:
2020-01-10
Acceptance date:
2019-12-20
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Language:
English
Pubs id:
pubs:1080702
UUID:
uuid:fb08f08b-8da4-463c-8b60-1941756a9550
Local pid:
pubs:1080702
Source identifiers:
1080702
Deposit date:
2020-01-02

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