Article
Glucocerebrosidase, a new player changing the old rules in Lewy body diseases.
Biological chemistry - 1 Jul 2013
Yang Na-Young, Lee Yu-Na, Lee He-Jin, Kim Yoon Suk, Lee Seung-Jae
Abstract excerpt
Mutations in the gene encoding glucocerebrosidase (GBA1) cause Gaucher disease (GD), a lysosomal storage disease with recessive inheritance. Glucocerebrosidase (GCase) is a lysosomal lipid hydrolase that digests glycolipid substrates, such as glucosylceramide and glucosylsphingosine. GBA1 mutations have been implicated in Lewy body diseases (LBDs), such as Parkinson's disease and dementia with Lewy bodies....
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