| pubmed-article:8407995 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8407995 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:8407995 | lifeskim:mentions | umls-concept:C0014442 | lld:lifeskim |
| pubmed-article:8407995 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:8407995 | lifeskim:mentions | umls-concept:C0017755 | lld:lifeskim |
| pubmed-article:8407995 | lifeskim:mentions | umls-concept:C0017919 | lld:lifeskim |
| pubmed-article:8407995 | lifeskim:mentions | umls-concept:C0204727 | lld:lifeskim |
| pubmed-article:8407995 | lifeskim:mentions | umls-concept:C0205409 | lld:lifeskim |
| pubmed-article:8407995 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:8407995 | lifeskim:mentions | umls-concept:C0591833 | lld:lifeskim |
| pubmed-article:8407995 | pubmed:issue | 29 | lld:pubmed |
| pubmed-article:8407995 | pubmed:dateCreated | 1993-11-18 | lld:pubmed |
| pubmed-article:8407995 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8407995 | pubmed:abstractText | Glycogen storage disease (GSD) type 1a (von Gierke disease) is caused by a deficiency in glucose-6-phosphatase, the key enzyme in glucose homeostasis catalyzing the terminal step in gluconeogenesis and glycogenolysis. Despite its clinical importance, this membrane-bound enzyme has eluded molecular characterization. Here we report the cloning and characterization of a murine glucose-6-phosphatase cDNA by screening a mouse liver cDNA library differentially with mRNA populations representing the normal and the albino deletion mouse known to express markedly reduced glucose-6-phosphatase activity. Additionally, we identified the gene that consists of 5 exons. Biochemical analyses indicate that the in vitro expressed enzyme is indistinguishable from mouse liver microsomal glucose-6-phosphatase exhibiting essentially identical kinetic constants, latency, thermal lability, and vanadate sensitivity. The characterization of the murine glucose-6-phosphatase gene opens the way for studying the molecular basis of GSD type 1a in humans and its etiology in an animal model. | lld:pubmed |
| pubmed-article:8407995 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8407995 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8407995 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8407995 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8407995 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8407995 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8407995 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8407995 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:8407995 | pubmed:issn | 0021-9258 | lld:pubmed |
| pubmed-article:8407995 | pubmed:author | pubmed-author:ChouJ YJY | lld:pubmed |
| pubmed-article:8407995 | pubmed:author | pubmed-author:SchutzGG | lld:pubmed |
| pubmed-article:8407995 | pubmed:author | pubmed-author:PanC JCJ | lld:pubmed |
| pubmed-article:8407995 | pubmed:author | pubmed-author:RuppertSS | lld:pubmed |
| pubmed-article:8407995 | pubmed:author | pubmed-author:LeiK JKJ | lld:pubmed |
| pubmed-article:8407995 | pubmed:author | pubmed-author:ShellyL LLL | lld:pubmed |
| pubmed-article:8407995 | pubmed:author | pubmed-author:SakataS FSF | lld:pubmed |
| pubmed-article:8407995 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8407995 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:8407995 | pubmed:volume | 268 | lld:pubmed |
| pubmed-article:8407995 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8407995 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8407995 | pubmed:pagination | 21482-5 | lld:pubmed |
| pubmed-article:8407995 | pubmed:dateRevised | 2004-11-17 | lld:pubmed |
| pubmed-article:8407995 | pubmed:meshHeading | pubmed-meshheading:8407995-... | lld:pubmed |
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| pubmed-article:8407995 | pubmed:meshHeading | pubmed-meshheading:8407995-... | lld:pubmed |
| pubmed-article:8407995 | pubmed:meshHeading | pubmed-meshheading:8407995-... | lld:pubmed |
| pubmed-article:8407995 | pubmed:meshHeading | pubmed-meshheading:8407995-... | lld:pubmed |
| pubmed-article:8407995 | pubmed:meshHeading | pubmed-meshheading:8407995-... | lld:pubmed |
| pubmed-article:8407995 | pubmed:meshHeading | pubmed-meshheading:8407995-... | lld:pubmed |
| pubmed-article:8407995 | pubmed:meshHeading | pubmed-meshheading:8407995-... | lld:pubmed |
| pubmed-article:8407995 | pubmed:meshHeading | pubmed-meshheading:8407995-... | lld:pubmed |
| pubmed-article:8407995 | pubmed:year | 1993 | lld:pubmed |
| pubmed-article:8407995 | pubmed:articleTitle | Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A. | lld:pubmed |
| pubmed-article:8407995 | pubmed:affiliation | Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892. | lld:pubmed |
| pubmed-article:8407995 | pubmed:publicationType | Journal Article | lld:pubmed |
| entrez-gene:14377 | entrezgene:pubmed | pubmed-article:8407995 | lld:entrezgene |
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