| pubmed-article:8900233 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8900233 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:8900233 | lifeskim:mentions | umls-concept:C0268275 | lld:lifeskim |
| pubmed-article:8900233 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:8900233 | lifeskim:mentions | umls-concept:C1513380 | lld:lifeskim |
| pubmed-article:8900233 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:8900233 | pubmed:dateCreated | 1996-12-11 | lld:pubmed |
| pubmed-article:8900233 | pubmed:abstractText | Lysosomal degradation of ganglioside GM2 by beta-hexosaminidase A (hex A) requires the presence of the GM2 activator protein (GM2AP) as an essential cofactor. A deficiency of the GM2 activator causes the AB variant of GM2 gangliosidosis, a recessively inherited disorder characterized by excessive neuronal accumulation of GM2 and related glycolipids. Two novel mutations in the GM2 activator gene (GM2A) have been identified by the reverse-transcriptase-PCR method--a three-base deletion, AAG262-264, resulting in a deletion of Lys88, and a single-base deletion, A410, that causes a frameshift. The latter results in substitution of 33 amino acids and the loss of another 24 amino acid residues. Both patients are homoallelic for their respective mutations inherited from their parents, who are heteroallelic at the GM2A locus. Although the cultured fibroblasts of both patients produce normal levels of activator mRNA, they lack a lysosomal form of GM2AP. Pulse/chase labeling of cultured fibroblasts of the patients, in presence and absence of brefeldin A, indicates a premature degradation of both--mutant and truncated--GM2APs in the endoplasmic reticulum or Golgi. These results were supported by in vitro translation experiments and expression of the mutated proteins. When the mutated GM2APs were expressed in Escherichia coli, both mature GM2AP forms turned proved to exhibit only residual activities in an in vitro assay. | lld:pubmed |
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| pubmed-article:8900233 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8900233 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8900233 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:8900233 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8900233 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:8900233 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:8900233 | pubmed:author | pubmed-author:SandhoffKK | lld:pubmed |
| pubmed-article:8900233 | pubmed:author | pubmed-author:HoffmannAA | lld:pubmed |
| pubmed-article:8900233 | pubmed:author | pubmed-author:OzandPP | lld:pubmed |
| pubmed-article:8900233 | pubmed:author | pubmed-author:ChabasAA | lld:pubmed |
| pubmed-article:8900233 | pubmed:author | pubmed-author:SchepersUU | lld:pubmed |
| pubmed-article:8900233 | pubmed:author | pubmed-author:GlombitzaGG | lld:pubmed |
| pubmed-article:8900233 | pubmed:author | pubmed-author:LemmTT | lld:pubmed |
| pubmed-article:8900233 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8900233 | pubmed:volume | 59 | lld:pubmed |
| pubmed-article:8900233 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8900233 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8900233 | pubmed:pagination | 1048-56 | lld:pubmed |
| pubmed-article:8900233 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:8900233 | pubmed:meshHeading | pubmed-meshheading:8900233-... | lld:pubmed |
| pubmed-article:8900233 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8900233 | pubmed:articleTitle | Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. | lld:pubmed |
| pubmed-article:8900233 | pubmed:affiliation | Institut für Organische Chemie und Biochemie der Universität Bonn. | lld:pubmed |
| pubmed-article:8900233 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8900233 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:8900233 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| literatureCitation:2616_890... | literatureCitation:pubmed | pubmed-article:8900233 | lld:drugbank |
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