Gaucher disease paradigm: From ERAD to comorbidity

Inna Bendikov-Bar, Mia Horowitz

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)1398-1407
Number of pages10
JournalHuman Mutation
Volume33
Issue number10
DOIs
StatePublished - Oct 2012

Keywords

  • E3 ubiquitin ligase
  • ERAD
  • GBA
  • Gaucher disease
  • Glucocerebrosidase

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