Na - Young Yang , Yu - Na Lee , He - Jin Lee , Yoon Suk Kim and Seung - Jae Lee * Glucocerebrosidase , a new player changing the old rules in Lewy body diseases
نویسندگان
چکیده
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. Parkinsonism occurs more frequently in certain types of GD, and GBA1 mutation carriers are more likely to have LBDs than noncarriers. Furthermore, GCase is often found in Lewy bodies, which are composed of α -synuclein fibrils as well as a variety of proteins and vesicles. In this review, we discuss potential mechanisms of action of GBA1 mutations in LBDs with particular emphasis on α -synuclein aggregation by reviewing the current literature on the role of GCase in lysosomal functions and glycolipid metabolism.
منابع مشابه
Glucocerebrosidase, a new player changing the old rules in Lewy body diseases.
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 ...
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