The metabolism of glucocerebrosides - From 1965 to the present.

The metabolism of glucocerebrosides - From 1965 to the present.

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 recom...

書誌詳細
主要な著者:	Futerman, A, Platt, F
フォーマット:	Journal article
言語:	English
出版事項:	Elsevier 2016

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