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AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

Abstract:

Niemann-Pick type C disease (NP-C) is a fatal neurodegenerative lysosomal storage disorder. It is caused in 95% of cases by a mutation in the NPC1 gene that encodes NPC1, an integral transmembrane protein localised to the limiting membrane of the lysosome. There is no cure for NP-C but there is a disease-modifying drug (miglustat) that slows disease progression but with associated side effects. Here, we demonstrate in a well-characterised mouse model of NP-C that a single administration of AA...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1093/hmg/ddy212

Authors


Hughes, MP More by this author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
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Funding agency for:
Huebecker, M
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Funding agency for:
Platt, FM
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Funding agency for:
Platt, FM
Asociación Niemann-Pick de Fuenlabrada Spain More from this funder
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Publisher:
Oxford University Press Publisher's website
Journal:
Human Molecular Genetics Journal website
Volume:
27
Issue:
17
Pages:
3079–3098
Publication date:
2018-06-05
Acceptance date:
2018-05-29
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Pubs id:
pubs:854800
URN:
uri:3e9b4d19-2e70-456b-b5e0-68735e687c94
UUID:
uuid:3e9b4d19-2e70-456b-b5e0-68735e687c94
Local pid:
pubs:854800

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