Galactosemia Proteins DB Project at Laboratory of Bioinformatics and Computational Biology
Institute of Food Science, National Council of the Researches, Avellino, Italy
Welcome to the Home Page of the Galactosemia Proteins DB Project, based at our Laboratory. Here you can find useful information about our work, and access to the results of our Project.
This database is aimed to offer structural and functional information about the three enzymes GALT, GALE, and GALK, involved in the different forms of galactosemia, and to investigate the possible effects of known variants affecting these enzymes.
The Project is the progression of a previous project concerning only the GALT enzyme. The GALT db release 2.0 is now available here.
Note: the Galactosemia Proteins DB is under continuous development. The current version is accessible here.
d'Acierno A, Facchiano A, and Marabotti A. (2014)
GALT Protein Database: querying structural and functional features of GALT enzyme.
Human Mutation, 2014, 35, 1060-1067. doi: 10.1002/humu.22613. PMID: 24990533
(reference to release 2.0 of the database).
d'Acierno A, Facchiano A, Marabotti A. (2009)
GALT Protein Database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants.
Genomics Proteomics Bioinformatics 2009, 7, 71-76.
(reference to release 1.0 of the database).
Marabotti A., Facchiano A. (2010)
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
Protein Eng Des Sel. 2010 Feb;23(2):103-13.
(reference to the description of the study on GALT mutations).
Marabotti A, Facchiano AM. (2005)
Homology modeling studies on human galactose-1-phosphate uridylyltransferase
and on its galactosemia-related variant Q188R provide an explanation of
molecular effects of the mutation on homo- and heterodimers.
J Med Chem. 2005 Feb 10;48(3):773-9.
(reference to the article on the modelling of human GALT and its variant Q188R).