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The metabolism of glucocerebrosides - From 1965 to the present.

Abstract:

Gaucher disease is caused by the defective catabolism of the simple glycosphingolipid, glucosylceramide (GlcCer), due to mutations in the GBA1 gene which encodes for acidβ-glucosidase (GCase), the lysosomal enzyme that degrades GlcCer. Today, Gaucher disease patients are routinely treated with recombinant GCase, in a treatment regimen known as enzyme replacement therapy (ERT). We now review the biochemical basis of ERT and discuss how this treatment has advanced since it was first pioneered b...

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

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Publisher copy:
10.1016/j.ymgme.2016.11.390

Authors


Futerman, AH More by this author
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Department:
Merton College
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Funding agency for:
Platt, FM
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Funding agency for:
Platt, FM
Weisman Institute of Science More from this funder
Publisher:
Elsevier Publisher's website
Journal:
Molecular Genetics and Metabolism Journal website
Volume:
120
Issue:
1-2
Pages:
22-26
Publication date:
2016-12-05
Acceptance date:
2016-11-30
DOI:
EISSN:
1096-7192
ISSN:
1096-7206
Pubs id:
pubs:666558
URN:
uri:30b405e9-aa02-4402-bd6c-1efdadce7cf3
UUID:
uuid:30b405e9-aa02-4402-bd6c-1efdadce7cf3
Local pid:
pubs:666558

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