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Lucerastat, an iminosugar for substrate reduction therapy in Fabry Disease: Preclinical evidence

Abstract:

Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the GLA gene coding for α-galactosidase A (α-GalA). These mutations lead to the accumulation of α-GalA substrates, including globotriaosylceramide (Gb3). As a consequence of lipid storage, Fabry patients can suffer from neuropathic pain, impaired kidney function and cardiomyopathy. Existing treatments for FD either require bi-weekly intravenous infusions of replacement enzyme, or are effective in a limited number of pat...

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

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Publisher copy:
10.1159/000475511

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Department:
Oxford, MSD, Pharmacology
Role:
Author
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Publisher:
Karger Publisher's website
Publication date:
2017-04-21
Acceptance date:
2017-03-15
DOI:
Pubs id:
pubs:688043
URN:
uri:4b6b1f50-7f47-4b1b-8acd-cfd2fd52f033
UUID:
uuid:4b6b1f50-7f47-4b1b-8acd-cfd2fd52f033
Local pid:
pubs:688043

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