| http://purl.uniprot.org/citations/24783948 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24783948 | http://www.w3.org/2000/01/rdf-schema#comment | "Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene often leading to missense α-galactosidase A (α-Gal A) variants that undergo premature endoplasmic reticulum-associated degradation due to folding defects. We have synthesized and characterized a new family of neutral amphiphilic pharmacological chaperones, namely 1-deoxygalactonojirimycin-arylthioureas (DGJ-ArTs), capable of stabilizing α-Gal A and restoring trafficking. Binding to the enzyme is reinforced by a strong hydrogen bond involving the aryl-N'H thiourea proton and the catalytic aspartic acid acid D231 of α-Gal A, as confirmed by a 2.55 Å resolution cocrystal structure. Selected candidates enhanced α-Gal A activity and ameliorate globotriaosylceramide (Gb3) accumulation and autophagy impairments in FD cell cultures. Moreover, they acted synergistically with the proteostasis regulator 4-phenylbutyric acid, appearing to be promising leads as pharmacological chaperones for FD."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.org/dc/terms/identifier | "doi:10.1021/cb500143h"xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Sakuraba H."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Suzuki Y."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Yu Y."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Ohno K."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Nanba E."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Johnson J.L."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Ninomiya H."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Drury J.E."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Garcia Fernandez J.M."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Higaki K."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Mena-Barragan T."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Lieberman R.L."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Tsukimura T."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Nakasone N."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/author | "Mellet C.O."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/name | "ACS Chem Biol"xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/pages | "1460-1469"xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/title | "Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human alpha-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants."xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://purl.uniprot.org/core/volume | "9"xsd:string |
| http://purl.uniprot.org/citations/24783948 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24783948 |
| http://purl.uniprot.org/citations/24783948 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24783948 |