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Hum Mutat. 2018 Jan;39(1):52-60. doi: 10.1002/humu.23346. Epub 2017 Oct 11.

The evolution of a Web resource: The Galactosemia Proteins Database 2.0.

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CNR-ISA, National Research Council, Institute of Food Science, Avellino, Italy.
Department of Chemistry and Biology "A. Zambelli", University of Salerno, Fisciano, SA, Italy.
Interuniversity Center "ELFID-European Laboratory for Food Induced Diseases", University of Salerno, Fisciano, Italy.


Galactosemia Proteins Database 2.0 is a Web-accessible resource collecting information about the structural and functional effects of the known variations associated to the three different enzymes of the Leloir pathway encoded by the genes GALT, GALE, and GALK1 and involved in the different forms of the genetic disease globally called "galactosemia." It represents an evolution of two available online resources we previously developed, with new data deriving from new structures, new analysis tools, and new interfaces and filters in order to improve the quality and quantity of information available for different categories of users. We propose this new resource both as a landmark for the entire world community of galactosemia and as a model for the development of similar tools for other proteins object of variations and involved in human diseases.


GALE; GALK1; GALT; database; galactosemia; protein structure; variations

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