| http://purl.uniprot.org/citations/12270683 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12270683 | http://www.w3.org/2000/01/rdf-schema#comment | "Mouse models of the G(M2) gangliosidoses, Tay-Sachs and Sandhoff disease, are null for the hexosaminidase alpha and beta subunits respectively. The Sandhoff (Hexb-/-) mouse has severe neurological disease and mimics the human infantile onset variant. However, the Tay-Sachs (Hexa-/-) mouse model lacks an overt phenotype as mice can partially bypass the blocked catabolic pathway and escape disease. We have investigated whether a subset of Tay-Sachs mice develop late onset disease. We have found that approximately 65% of the mice develop one or more clinical signs of the disease within their natural life span (n = 52, P < 0.0001). However, 100% of female mice with repeat breeding histories developed late onset disease at an earlier age (n = 21, P < 0.0001) and displayed all clinical features. Repeat breeding of a large cohort of female Tay-Sachs mice confirmed that pregnancy induces late onset Tay-Sachs disease. Onset of symptoms correlated with reduced up-regulation of hexosaminidase B, a component of the bypass pathway."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.org/dc/terms/identifier | "doi:10.1006/nbdi.2002.0511"xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Smith D."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Platt F.M."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Sandhoff K."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Dwek R.A."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Lemm T."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Butters T.D."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Perry V.H."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Reinkensmeier G."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Jeyakumar M."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Cortina-Borja M."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/author | "Eliott-Smith E."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/name | "Neurobiol Dis"xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/pages | "201-210"xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/title | "An inducible mouse model of late onset Tay-Sachs disease."xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://purl.uniprot.org/core/volume | "10"xsd:string |
| http://purl.uniprot.org/citations/12270683 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12270683 |
| http://purl.uniprot.org/citations/12270683 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/12270683 |
| http://purl.uniprot.org/uniprot/#_Q3THQ0-mappedCitation-12270683 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12270683 |
| http://purl.uniprot.org/uniprot/#_Q3TXV7-mappedCitation-12270683 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12270683 |
| http://purl.uniprot.org/uniprot/#_Q3U936-mappedCitation-12270683 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12270683 |
| http://purl.uniprot.org/uniprot/#_Q8BNS6-mappedCitation-12270683 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12270683 |