Gaucher disease paradigm: From ERAD to comorbidity
| Autor: | Mia Horowitz, Inna Bendikov-Bar |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Proteasome Endopeptidase Complex
Mutation Gaucher Disease Endoplasmic reticulum Mutant ER retention Comorbidity Endoplasmic Reticulum-Associated Degradation Biology Endoplasmic-reticulum-associated protein degradation Endoplasmic Reticulum medicine.disease_cause Molecular biology Glucosylceramidase Biochemistry Proteasome Genetics medicine Humans Glucocerebrosidase Genetics (clinical) |
| Zdroj: | Human Mutation. 33:1398-1407 |
| ISSN: | 1059-7794 |
| DOI: | 10.1002/humu.22124 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text