| pubmed-article:19607915 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19607915 | lifeskim:mentions | umls-concept:C0012984 | lld:lifeskim |
| pubmed-article:19607915 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:19607915 | lifeskim:mentions | umls-concept:C2753315 | lld:lifeskim |
| pubmed-article:19607915 | lifeskim:mentions | umls-concept:C0005220 | lld:lifeskim |
| pubmed-article:19607915 | lifeskim:mentions | umls-concept:C0017262 | lld:lifeskim |
| pubmed-article:19607915 | lifeskim:mentions | umls-concept:C2911684 | lld:lifeskim |
| pubmed-article:19607915 | lifeskim:mentions | umls-concept:C0185117 | lld:lifeskim |
| pubmed-article:19607915 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:19607915 | pubmed:dateCreated | 2009-9-28 | lld:pubmed |
| pubmed-article:19607915 | pubmed:abstractText | beta-galactosidase (GLB1) forms a functional lysosomal multienzyme complex with lysosomal protective protein (PPCA) and neuraminidase 1 (NEU1) which is important for its intracellular processing and activity. Mutations in the beta-galactosidase gene cause the lysosomal storage disease G(M1)-gangliosidosis. In order to identify additional molecular changes associated with the presence of beta-galactosidase mutations, the expression of canine lysosomal multienzyme complex components in GLB1(+/+), GLB1(+/-) and GLB1(-/-) fibroblasts was investigated by quantitative RT-PCR, Western blot and enzymatic assays. Quantitative RT-PCR revealed differential regulation of total beta-galactosidase, beta-galactosidase variants and protective protein for beta-galactosidase gene (PPGB) in GLB1(+/-) and GLB1(-/-) compared to GLB1(+/+) fibroblasts. Furthermore, it was shown that PPGB levels gradually increased with the number of mutant beta-galactosidase alleles while no change in the NEU1 expression was observed. This is the first study that simultaneously examine the effect of GLB1(+/+), GLB1(+/-) and GLB1(-/-) genotypes on the expression of lysosomal multienzyme complex components. The findings reveal a possible adaptive process in GLB1 homozygous mutant and heterozygous individuals that could facilitate the design of efficient therapeutic strategies. | lld:pubmed |
| pubmed-article:19607915 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19607915 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19607915 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19607915 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19607915 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19607915 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19607915 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19607915 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19607915 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19607915 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:19607915 | pubmed:issn | 0006-3002 | lld:pubmed |
| pubmed-article:19607915 | pubmed:author | pubmed-author:SewellAdrian... | lld:pubmed |
| pubmed-article:19607915 | pubmed:author | pubmed-author:BaumgärtnerWo... | lld:pubmed |
| pubmed-article:19607915 | pubmed:author | pubmed-author:LeebTossoT | lld:pubmed |
| pubmed-article:19607915 | pubmed:author | pubmed-author:KreutzerRober... | lld:pubmed |
| pubmed-article:19607915 | pubmed:author | pubmed-author:KreutzerMihae... | lld:pubmed |
| pubmed-article:19607915 | pubmed:author | pubmed-author:Techangamsuwa... | lld:pubmed |
| pubmed-article:19607915 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:19607915 | pubmed:volume | 1792 | lld:pubmed |
| pubmed-article:19607915 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19607915 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19607915 | pubmed:pagination | 982-7 | lld:pubmed |
| pubmed-article:19607915 | pubmed:meshHeading | pubmed-meshheading:19607915... | lld:pubmed |
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| pubmed-article:19607915 | pubmed:meshHeading | pubmed-meshheading:19607915... | lld:pubmed |
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| pubmed-article:19607915 | pubmed:meshHeading | pubmed-meshheading:19607915... | lld:pubmed |
| pubmed-article:19607915 | pubmed:meshHeading | pubmed-meshheading:19607915... | lld:pubmed |
| pubmed-article:19607915 | pubmed:meshHeading | pubmed-meshheading:19607915... | lld:pubmed |
| pubmed-article:19607915 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19607915 | pubmed:articleTitle | Impact of beta-galactosidase mutations on the expression of the canine lysosomal multienzyme complex. | lld:pubmed |
| pubmed-article:19607915 | pubmed:affiliation | Department of Pathology, University of Veterinary Medicine, Hannover, Bünteweg 17, D-30559, Hannover, Germany. robert.kreutzer@tiho-hannover.de | lld:pubmed |
| pubmed-article:19607915 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19607915 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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