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Molecular basis for the deficiency in humans of gulonolactone oxidase, a key enzyme for ascorbic acid biosynthesis.
Institute of Applied Biochemistry, Yagi Memorial Park, Gifu, Japan.
The inability of humans to synthesize L-ascorbic acid is known to be due to a lack of L-gulono-gamma-lactone oxidase, an enzyme that is required for the biosynthesis of this vitamin. Isolation of a cDNA for rat L-gulono-gamma-lactone oxidase allowed us to study the basic defect underlying this deficiency at the gene level and led to isolation of a human genomic clone related to L-gulono-gamma-lactone oxidase as well as three overlapping clones covering the entire coding region of the rat L-gulono-gamma-lactone oxidase cDNA. Sequence analysis study indicated that the human L-gulono-gamma-lactone oxidase gene has accumulated a large number of mutations since it stopped being active and that it now exists as a pseudogene in the human genome.
PMID: 1962571 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Pseudo-messenger RNA: phantoms of the transcriptome.
Frith MC, Wilming LG, Forrest A, Kawaji H, Tan SL, Wahlestedt C, Bajic VB, Kai C, Kawai J, Carninci P, et al.
PLoS Genet. 2006 Apr; 2(4):e23. Epub 2006 Apr 28.
[PLoS Genet. 2006]
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Ascorbic acid stimulates gonadotropin release by autocrine action by means of NO.
Karanth S, Yu WH, Walczewska A, Mastronardi CA, McCann SM.
Proc Natl Acad Sci U S A. 2001 Sep 25; 98(20):11783-8. Epub 2001 Sep 18.
[Proc Natl Acad Sci U S A. 2001]