| pubmed-article:6933565 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:6933565 | lifeskim:mentions | umls-concept:C0002878 | lld:lifeskim |
| pubmed-article:6933565 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:6933565 | lifeskim:mentions | umls-concept:C0262496 | lld:lifeskim |
| pubmed-article:6933565 | lifeskim:mentions | umls-concept:C0205191 | lld:lifeskim |
| pubmed-article:6933565 | lifeskim:mentions | umls-concept:C0597219 | lld:lifeskim |
| pubmed-article:6933565 | pubmed:issue | 9 | lld:pubmed |
| pubmed-article:6933565 | pubmed:dateCreated | 1981-1-29 | lld:pubmed |
| pubmed-article:6933565 | pubmed:abstractText | Inherited deficiency of phosphoglycerate kinase (PGK; ATP:3-phosphoglycerate 1-phosphotransferase, EC 2.7.2.3) is associated with chronic nonspherocytic hemolytic anemia and mental disorders in man. One such variant, PGK-Uppsala, was purified to homogeneity. PGK-Uppsala had a lower-than-normal specific activity (30% of normal in the backward reaction and about 20% of normal in the forward reaction) and higher-than-normal Michaelis constants for ATP, ADP, 3-phosphoglycerate and 1,3-diphosphoglycerate. Peptide mapping analysis revealed that the structural abnormality of PGK-Uppsala is a single amino acid substitution from arginine to proline at the 206th position. Based on the known complete amino acid sequence of the normal human PGK and the three-dimensional model deduced from horse PGK, correlations between the structural and functional abnormalities of PGK-Uppsala are discussed. Structural abnormalities of PGK-II, which is an electrophoretic variant not associated with enzyme deficiency, and PGK-München, which is associated with enzyme deficiency and heat instability but not associated with hemolytic anemia, are also discussed. | lld:pubmed |
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| pubmed-article:6933565 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:6933565 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:6933565 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:6933565 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:6933565 | pubmed:issn | 0027-8424 | lld:pubmed |
| pubmed-article:6933565 | pubmed:author | pubmed-author:YoshidaAA | lld:pubmed |
| pubmed-article:6933565 | pubmed:author | pubmed-author:FujiiHH | lld:pubmed |
| pubmed-article:6933565 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:6933565 | pubmed:volume | 77 | lld:pubmed |
| pubmed-article:6933565 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:6933565 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:6933565 | pubmed:pagination | 5461-5 | lld:pubmed |
| pubmed-article:6933565 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:6933565 | pubmed:meshHeading | pubmed-meshheading:6933565-... | lld:pubmed |
| pubmed-article:6933565 | pubmed:year | 1980 | lld:pubmed |
| pubmed-article:6933565 | pubmed:articleTitle | Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. | lld:pubmed |
| pubmed-article:6933565 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:6933565 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
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