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Li, V. GALE Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5615 (accessed on 21 September 2026).
Li V. GALE Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5615. Accessed September 21, 2026.
Li, Vivi. "GALE Gene" Encyclopedia, https://encyclopedia.pub/entry/5615 (accessed September 21, 2026).
Li, V. (2020, December 25). GALE Gene. In Encyclopedia. https://encyclopedia.pub/entry/5615
Li, Vivi. "GALE Gene." Encyclopedia. Web. 25 December, 2020.
GALE Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/gale

UDP-galactose-4-epimerase

genes

References

  1. Fridovich-Keil J, Bean L, He M, Schroer R. Epimerase Deficiency Galactosemia. 2011 Jan 25 [updated 2016 Jun 16]. In: Adam MP, Ardinger HH, Pagon RA, WallaceSE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle(WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK51671/
  2. Pey AL, Padín-Gonzalez E, Mesa-Torres N, Timson DJ. The metastability of humanUDP-galactose 4'-epimerase (GALE) is increased by variants associated with typeIII galactosemia but decreased by substrate and cofactor binding. Arch BiochemBiophys. 2014 Nov 15;562:103-14. doi: 10.1016/j.abb.2014.07.030.
  3. Schulz JM, Watson AL, Sanders R, Ross KL, Thoden JB, Holden HM, Fridovich-KeilJL. Determinants of function and substrate specificity in human UDP-galactose4'-epimerase. J Biol Chem. 2004 Jul 30;279(31):32796-803.
  4. Timson DJ, Lindert S. Comparison of dynamics of wildtype and V94M humanUDP-galactose 4-epimerase-A computational perspective on severeepimerase-deficiency galactosemia. Gene. 2013 Sep 10;526(2):318-24. doi:10.1016/j.gene.2013.05.027.
  5. Timson DJ. Functional analysis of disease-causing mutations in humanUDP-galactose 4-epimerase. FEBS J. 2005 Dec;272(23):6170-7.
  6. Timson DJ. The structural and molecular biology of type III galactosemia.IUBMB Life. 2006 Feb;58(2):83-9. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 858
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
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