| pubmed-article:15944348 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15944348 | lifeskim:mentions | umls-concept:C0012984 | lld:lifeskim |
| pubmed-article:15944348 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:15944348 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:15944348 | lifeskim:mentions | umls-concept:C0005220 | lld:lifeskim |
| pubmed-article:15944348 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:15944348 | lifeskim:mentions | umls-concept:C1415090 | lld:lifeskim |
| pubmed-article:15944348 | lifeskim:mentions | umls-concept:C0332597 | lld:lifeskim |
| pubmed-article:15944348 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:15944348 | lifeskim:mentions | umls-concept:C1710079 | lld:lifeskim |
| pubmed-article:15944348 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:15944348 | pubmed:dateCreated | 2005-9-7 | lld:pubmed |
| pubmed-article:15944348 | pubmed:abstractText | GM(1)-gangliosidosis is a lysosomal storage disease that is inherited as an autosomal recessive disorder, predominantly caused by structural defects in the beta-galactosidase gene (GLB1). The molecular cause of GM(1)-gangliosidosis in Alaskan huskies was investigated and a novel 19-bp duplication in exon 15 of the GLB1 gene was identified. The duplication comprised positions +1688-+1706 of the GLB1 cDNA. It partially disrupted a potential exon splicing enhancer (ESE), leading to exon skipping in a fraction of the transcripts. Thus, the mutation caused the expression of two different mRNAs from the mutant allele. One transcript contained the complete exon 15 with the 19-bp duplication, while the other transcript lacked exon 15. In the transcript containing exon 15 with the 19-bp duplication a premature termination codon (PTC) appeared, but due to its localization in the last exon of canine GLB1, nonsense-mediated RNA decay (NMD) did not occur. As a consequence of these molecular events two different truncated GLB1 proteins are predicted to be expressed from the mutant GLB1 allele. In heterozygous carrier animals the wild-type allele produces sufficient amounts of the active enzyme to prevent clinical signs of disease. In affected homozygous dogs no functional GLB1 is synthesized and G(M1)-gangliosidosis occurs. | lld:pubmed |
| pubmed-article:15944348 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:15944348 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15944348 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15944348 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15944348 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15944348 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15944348 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15944348 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:15944348 | pubmed:issn | 0016-6731 | lld:pubmed |
| pubmed-article:15944348 | pubmed:author | pubmed-author:BaumgärtnerWo... | lld:pubmed |
| pubmed-article:15944348 | pubmed:author | pubmed-author:LeebTossoT | lld:pubmed |
| pubmed-article:15944348 | pubmed:author | pubmed-author:MoritzAndreas... | lld:pubmed |
| pubmed-article:15944348 | pubmed:author | pubmed-author:MüllerGundiG | lld:pubmed |
| pubmed-article:15944348 | pubmed:author | pubmed-author:KreutzerRober... | lld:pubmed |
| pubmed-article:15944348 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15944348 | pubmed:volume | 170 | lld:pubmed |
| pubmed-article:15944348 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15944348 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15944348 | pubmed:pagination | 1857-61 | lld:pubmed |
| pubmed-article:15944348 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:15944348 | pubmed:meshHeading | pubmed-meshheading:15944348... | lld:pubmed |
| pubmed-article:15944348 | pubmed:meshHeading | pubmed-meshheading:15944348... | lld:pubmed |
| pubmed-article:15944348 | pubmed:meshHeading | pubmed-meshheading:15944348... | lld:pubmed |
| pubmed-article:15944348 | pubmed:meshHeading | pubmed-meshheading:15944348... | lld:pubmed |
| pubmed-article:15944348 | pubmed:meshHeading | pubmed-meshheading:15944348... | lld:pubmed |
| pubmed-article:15944348 | pubmed:meshHeading | pubmed-meshheading:15944348... | lld:pubmed |
| pubmed-article:15944348 | pubmed:meshHeading | pubmed-meshheading:15944348... | lld:pubmed |
| pubmed-article:15944348 | pubmed:meshHeading | pubmed-meshheading:15944348... | lld:pubmed |
| pubmed-article:15944348 | pubmed:meshHeading | pubmed-meshheading:15944348... | lld:pubmed |
| pubmed-article:15944348 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:15944348 | pubmed:articleTitle | A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. | lld:pubmed |
| pubmed-article:15944348 | pubmed:affiliation | Department for Pathology, University of Veterinary Medicine, 30559 Hannover, Germany. | lld:pubmed |
| pubmed-article:15944348 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15944348 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
