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| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C0002986 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C0002520 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C0002268 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C0237753 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C0332197 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C0205217 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C1880274 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C1706395 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C1514562 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C1883221 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C0392756 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C0392747 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C0243102 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C2267219 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C1709915 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C1554963 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C1553877 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C1883204 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C1608885 | lld:lifeskim |
| pubmed-article:8878432 | lifeskim:mentions | umls-concept:C1880389 | lld:lifeskim |
| pubmed-article:8878432 | pubmed:issue | 8 | lld:pubmed |
| pubmed-article:8878432 | pubmed:dateCreated | 1996-11-27 | lld:pubmed |
| pubmed-article:8878432 | pubmed:abstractText | Fabry disease is an X-linked disorder of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A (alpha-Gal A). We identified a novel mutation of alpha-Gal A gene in a family with Fabry disease, which converted a tyrosine at codon 365 to a stop and resulted in a truncation of the carboxy (C) terminus by 65 amino acid (AA) residues. In a heterozygote of this family, although the mutant and normal alleles were equally transcribed in cultured fibroblasts, lymphocyte alpha-Gal A activity was approximately 30% of the normal control and severe clinical symptoms were apparent. COS-1 cells transfected with this mutant cDNA showed a complete loss of its enzymatic activity. Furthermore, those cotransfected with mutant and wildtype cDNAs showed a lower alpha-Gal A activity than those with wild type alone (approximately 30% of wild type alone), which suggested the dominant negative effect of this mutation and implied the importance of the C terminus for its activity. Thus, we generated mutant cDNAs with various deletion of the C terminus, and analyzed. Unexpectedly, alpha-Gal A activity was enhanced by up to sixfold compared with wild-type when from 2 to 10 AA residues were deleted. In contrast, deletion of 12 or more AA acid residues resulted in a complete loss of enzyme activity. Our data suggest that the C-terminal region of alpha-Gal A plays an important role in the regulation of its enzyme activity. | lld:pubmed |
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| pubmed-article:8878432 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8878432 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8878432 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:8878432 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8878432 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8878432 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8878432 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:8878432 | pubmed:issn | 0021-9738 | lld:pubmed |
| pubmed-article:8878432 | pubmed:author | pubmed-author:MatsudaKK | lld:pubmed |
| pubmed-article:8878432 | pubmed:author | pubmed-author:YamaguchiKK | lld:pubmed |
| pubmed-article:8878432 | pubmed:author | pubmed-author:ShichiriMM | lld:pubmed |
| pubmed-article:8878432 | pubmed:author | pubmed-author:KishikawaHH | lld:pubmed |
| pubmed-article:8878432 | pubmed:author | pubmed-author:YoshimuraRR | lld:pubmed |
| pubmed-article:8878432 | pubmed:author | pubmed-author:FurukawaNN | lld:pubmed |
| pubmed-article:8878432 | pubmed:author | pubmed-author:ArakiEE | lld:pubmed |
| pubmed-article:8878432 | pubmed:author | pubmed-author:ShirotaniTT | lld:pubmed |
| pubmed-article:8878432 | pubmed:author | pubmed-author:MiyamuraNN | lld:pubmed |
| pubmed-article:8878432 | pubmed:author | pubmed-author:TsuruzoeKK | lld:pubmed |
| pubmed-article:8878432 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8878432 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:8878432 | pubmed:volume | 98 | lld:pubmed |
| pubmed-article:8878432 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8878432 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8878432 | pubmed:pagination | 1809-17 | lld:pubmed |
| pubmed-article:8878432 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:8878432 | pubmed:meshHeading | pubmed-meshheading:8878432-... | lld:pubmed |
