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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 acid β-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 by Dr. Roscoe Brady in the 1960s. We will place particular emphasis on the three dimensional structure of GCase, and subsequently discuss a relatively new treatment paradigm, substrate reduction therapy (SRT), in which GlcCer synthesis is partially inhibited, thus reducing its accumulation. Both of these approaches are based on studies and concepts developed by Dr. Brady over his remarkable research career spanning six decades.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Futerman AH,Platt FM

doi

10.1016/j.ymgme.2016.11.390

subject

Has Abstract

pub_date

2017-01-01 00:00:00

pages

22-26

issue

1-2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(16)30355-9

journal_volume

120

pub_type

传,历史文章,杂志文章,评审

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