| http://purl.uniprot.org/citations/33036426 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33036426 | http://www.w3.org/2000/01/rdf-schema#comment | "Fabry disease, an X-linked recessive lysosomal disease, results from mutations in the GLA gene encoding lysosomal α-galactosidase A (α-Gal A). Due to these mutations, there is accumulation of globotriaosylceramide (GL-3) in plasma and in a wide range of cells throughout the body. Like other lysosomal enzymes, α-Gal A is synthesized on endoplasmic reticulum (ER) bound polyribosomes, and upon entry into the ER it undergoes glycosylation and folding. It was previously suggested that α-Gal A variants are recognized as misfolded in the ER and undergo ER-associated degradation (ERAD). In the present study, we used Drosophila melanogaster to model misfolding of α-Gal A mutants. We did so by creating transgenic flies expressing mutant α-Gal A variants and assessing development of ER stress, activation of the ER stress response and their relief with a known α-Gal A chaperone, migalastat. Our results showed that the A156V and the A285D α-Gal A mutants underwent ER retention, which led to activation of unfolded protein response (UPR) and ERAD. UPR could be alleviated by migalastat. When expressed in the fly's dopaminergic cells, misfolding of α-Gal A and UPR activation led to death of these cells and to a shorter life span, which could be improved, in a mutation-dependent manner, by migalastat."xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.org/dc/terms/identifier | "doi:10.3390/ijms21197397"xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/author | "Rolfs A."xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/author | "Horowitz M."xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/author | "Lukas J."xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/author | "Papazian M."xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/author | "Braunstein H."xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/author | "Maor G."xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/name | "Int J Mol Sci"xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/pages | "E7397"xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/title | "Misfolding of Lysosomal alpha-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat."xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://purl.uniprot.org/core/volume | "21"xsd:string |
| http://purl.uniprot.org/citations/33036426 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/33036426 |
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