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Hum Mutat. 2012 Oct;33(10):1398-407. doi: 10.1002/humu.22124. Epub 2012 Jun 11.

Gaucher disease paradigm: from ERAD to comorbidity.

Author information

1
Department of Cell Research and Immunology, Tel Aviv University, Ramat Aviv, Israel.

Abstract

Mutations in the GBA gene, encoding the lysosomal acid beta-glucocerebrosidase (GCase), lead to deficient activity of the enzyme in the lysosomes, to glucosylceramide accumulation and to development of Gaucher disease (GD). More than 280 mutations in the GBA gene have been directly associated with GD. Mutant GCase variants present variable levels of endoplasmic reticulum (ER) retention, due to their inability to correctly fold, and undergo ER-associated degradation (ERAD) in the proteasomes. The degree of ER retention and proteasomal degradation is one of the factors that determine GD severity. In the present review, we discuss ERAD of mutant GCase variants and its possible consequences in GD patients and in carriers of GD mutations.

PMID:
22623374
DOI:
10.1002/humu.22124
[Indexed for MEDLINE]

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