| http://purl.uniprot.org/citations/8789434 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8789434 | http://www.w3.org/2000/01/rdf-schema#comment | "We have generated mouse models of human Tay-Sachs and Sandhoff diseases by targeted disruption of the Hexa (alpha subunit) or Hexb (beta subunit) genes, respectively, encoding lysosomal beta-hexosaminidase A (structure, alpha) and B (structure, beta beta). Both mutant mice accumulate GM2 ganglioside in brain, much more so in Hexb -/-mice, and the latter also accumulate glycolipid GA2. Hexa -/-mice suffer no obvious behavioral or neurological deficit, while Hexb -/-mice develop a fatal neurodegenerative disease, with spasticity, muscle weakness, rigidity, tremor and ataxia. The Hexb -/- but not the Hexa -/-mice have massive depletion of spinal cord axons as an apparent consequence of neuronal storage of GM2. We propose that Hexa -/-mice escape disease through partial catabolism of accumulated GM2 via GA2 (asialo-GM2) through the combined action of sialidase and beta-hexosaminidase B."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/5.1.1"xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Leclerc D."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Morales C.R."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Gravel R.A."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Wakamatsu N."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Marth J.D."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Hanai N."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Ritter G."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Trasler J.M."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Borowski A."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Phaneuf D."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Akerman B.R."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Igdoura S.A."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Benoit G."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Huang J.Q."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Peterson A.C."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/author | "Fortunato S.R."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/pages | "1-14"xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/title | "Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases."xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://purl.uniprot.org/core/volume | "5"xsd:string |
| http://purl.uniprot.org/citations/8789434 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8789434 |