| http://purl.uniprot.org/citations/15953731 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15953731 | http://www.w3.org/2000/01/rdf-schema#comment | "Sandhoff disease is an autosomal recessive neurodegenerative disease characterized by a GM2 ganglioside intralysosomal accumulation. It is due to mutations in the beta-hexosaminidases beta-chain gene, resulting in a beta-hexosaminidases A (alphabeta) and B (betabeta) deficiency. Mono and bicistronic lentiviral vectors containing the HEXA or/and HEXB cDNAs were constructed and tested on human Sandhoff fibroblasts. The bicistronic SIV.ASB vector enabled a massive restoration of beta-hexosaminidases activity on synthetic substrates and a 20% correction on the GM2 natural substrate. Metabolic labeling experiments showed a large reduction of ganglioside accumulation in SIV.ASB transduced cells, demonstrating a correct recombinant enzyme targeting to the lysosomes. Moreover, enzymes secreted by transduced Sandhoff fibroblasts were endocytosed in deficient cells via the mannose 6-phosphate pathway, allowing GM2 metabolism restoration in cross-corrected cells. Therefore, our bicistronic lentivector supplying both alpha- and beta-subunits of beta-hexosaminidases may provide a potential therapeutic tool for the treatment of Sandhoff disease."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nbd.2005.04.017"xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Li Y.T."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Caillaud C."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Poenaru L."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Emiliani C."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Orlacchio A."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Basso L."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Chigorno V."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Sonnino S."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Arfi A."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Bourgoin C."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/author | "Tancini B."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/name | "Neurobiol Dis"xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/pages | "583-593"xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/title | "Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts."xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://purl.uniprot.org/core/volume | "20"xsd:string |
| http://purl.uniprot.org/citations/15953731 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15953731 |
| http://purl.uniprot.org/citations/15953731 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/15953731 |
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| http://purl.uniprot.org/uniprot/#_A0A0S2Z3U8-mappedCitation-15953731 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15953731 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z3W3-mappedCitation-15953731 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15953731 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z3X0-mappedCitation-15953731 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15953731 |