| pubmed-article:9063740 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9063740 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:9063740 | lifeskim:mentions | umls-concept:C0007682 | lld:lifeskim |
| pubmed-article:9063740 | lifeskim:mentions | umls-concept:C0016895 | lld:lifeskim |
| pubmed-article:9063740 | lifeskim:mentions | umls-concept:C0205246 | lld:lifeskim |
| pubmed-article:9063740 | lifeskim:mentions | umls-concept:C0243693 | lld:lifeskim |
| pubmed-article:9063740 | lifeskim:mentions | umls-concept:C0522501 | lld:lifeskim |
| pubmed-article:9063740 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:9063740 | pubmed:dateCreated | 1997-8-27 | lld:pubmed |
| pubmed-article:9063740 | pubmed:abstractText | Human GM1-gangliosidosis is caused by a genetic deficiency of lysosomal acid beta-galactosidase (beta-gal). The disease manifests itself either as an infantile, juvenile or adult form and is primarily a neurological disorder with progressive brain dysfunction. A mouse model lacking a functional beta-gal gene has been generated by homologous recombination and embryonic stem cell technology. Tissues from affected mice are devoid of beta-gal mRNA and totally deficient in GM1-ganglioside-hydrolyzing capacity. Storage material was already conspicuous in the brain at 3 weeks. By 5 weeks, extensive storage of periodic acid Schiff-positive material was observed in neurons throughout the brain and spinal cord. Consistent with the neuropathology, abnormal accumulation of GM1-ganglioside in the brain progressed from twice to almost five times the normal amount during the period from 3 weeks to 3.5 months. Despite the accumulation of brain GM1-ganglioside at the level equal to or exceeding that seen in gravely ill human patients, these mice show no overt clinical phenotype up to 4-5 months. However, tremor, ataxia and abnormal gait become apparent in older mice. Thus, the beta-gal-deficient mice appear to mimic closely the pathological, biochemical and clinical abnormalities of the human disease. | lld:pubmed |
| pubmed-article:9063740 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063740 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063740 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063740 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9063740 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063740 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9063740 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063740 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063740 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063740 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063740 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9063740 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9063740 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:9063740 | pubmed:issn | 0964-6906 | lld:pubmed |
| pubmed-article:9063740 | pubmed:author | pubmed-author:SuzukiKK | lld:pubmed |
| pubmed-article:9063740 | pubmed:author | pubmed-author:HaroGG | lld:pubmed |
| pubmed-article:9063740 | pubmed:author | pubmed-author:VanierM TMT | lld:pubmed |
| pubmed-article:9063740 | pubmed:author | pubmed-author:SchröderMM | lld:pubmed |
| pubmed-article:9063740 | pubmed:author | pubmed-author:d'AzzoAA | lld:pubmed |
| pubmed-article:9063740 | pubmed:author | pubmed-author:HallA VAV | lld:pubmed |
| pubmed-article:9063740 | pubmed:author | pubmed-author:del Pilar... | lld:pubmed |
| pubmed-article:9063740 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9063740 | pubmed:volume | 6 | lld:pubmed |
| pubmed-article:9063740 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9063740 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9063740 | pubmed:pagination | 205-11 | lld:pubmed |
| pubmed-article:9063740 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:meshHeading | pubmed-meshheading:9063740-... | lld:pubmed |
| pubmed-article:9063740 | pubmed:year | 1997 | lld:pubmed |
| pubmed-article:9063740 | pubmed:articleTitle | Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase. | lld:pubmed |
| pubmed-article:9063740 | pubmed:affiliation | Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA. | lld:pubmed |
| pubmed-article:9063740 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9063740 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:9063740 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:12091 | entrezgene:pubmed | pubmed-article:9063740 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9063740 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9063740 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9063740 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9063740 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9063740 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9063740 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9063740 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9063740 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9063740 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9063740 | lld:pubmed |
