A mouse model of galactose-1-phosphate uridyl transferase deficiency.

@article{Leslie1996AMM,
  title={A mouse model of galactose-1-phosphate uridyl transferase deficiency.},
  author={Nancy D. Leslie and K L Yager and Pamela D. McNamara and Stanton Segal},
  journal={Biochemical and molecular medicine},
  year={1996},
  volume={59 1},
  pages={
          7-12
        }
}
Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene targeting. GALT-deficient mice develop biochemical features similar to those seen in humans with GALT deficiency, but fail to develop the pattern of acute toxicity seen in newborns with classical galactosemia. This study suggests that alternative routes of galactose metabolism are important in the pathogenesis of galactosemia. 
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Evidence for function of UDP galactose pyrophosphorylase in mice with absent galactose-1-phosphate uridyltransferase.
Galactose Metabolism by the Mouse with Galactose-1-Phosphate Uridyltransferase Deficiency
TLDR
Despite the presence of galactose and its metabolites in tissues and urine and impaired ability to oxidize the sugar, the GALT-deficient animals are indistinguishable from normal animals and do not exhibit the phenotype of humans with GALT -deficiency galACTosemia.
Alterations of galactose metabolism caused by deficit of galactose-1-phosphate uridylyltransferase activity: An overview of galactosemia type I
GALT deficiency causes UDP-hexose deficit in human galactosemic cells.
TLDR
It is concluded that intracellular concentrations of Gal-1-P found in classic galactosemia inhibit UDP-hexose pyrophosphorylases and reduce the intrace cellular concentrations of UDP- hexoses.
Insights into the pathogenesis of galactosemia.
  • N. Leslie
  • Biology
    Annual review of nutrition
  • 2003
TLDR
The creation of a knockout mouse model for GALT deficiency was aimed at providing an organism in which metabolic challenges and gene manipulation could address the enigmatic pathophysiologic questions raised by humans with galactosemia.
A Drosophila melanogaster model of classic galactosemia
TLDR
This work reports the establishment of a Drosophila melanogaster model of classic galactosemia, the first whole-animal genetic model to mimic aspects of the patient phenotype, and begins to dissect the timing, extent and mechanism(s) of Galactose sensitivity in the absence of GALT activity.
Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model.
UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency.
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model
TLDR
A new GalT gene-trapped mouse model is constructed by injecting GalT genes into embryonic stem cells into blastocysts, which were later implanted into pseudo-pregnant females and found to be fertile and symptom free.
Overexpression of human UDP-glucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast.
  • K. Lai, L. Elsas
  • Biology
    Biochemical and biophysical research communications
  • 2000
TLDR
It is concluded that revertant can grow on galactose medium by reducing the accumulation of toxic precursors through down- regulation of the GAL regulon and up-regulation of the UGP1 gene.
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