@misc{10481/67733,
year = {2021},
month = {2},
url = {http://hdl.handle.net/10481/67733},
abstract = {Galactosemia is a rare inherited metabolic disease resulting from mutations in the four
genes which encode enzymes involved in the metabolism of galactose. The current therapy, the
removal of galactose from the diet, is inadequate. Consequently, many patients suffer lifelong
physical and cognitive disability. The phenotype varies from almost asymptomatic to life-threatening
disability. The fundamental biochemical cause of the disease is a decrease in enzymatic activity due
to failure of the affected protein to fold and/or function correctly. Many novel therapies have been
proposed for the treatment of galactosemia. Often, these are designed to treat the symptoms and
not the fundamental cause. Pharmacological chaperones (PC) (small molecules which correct the
folding of misfolded proteins) represent an exciting potential therapy for galactosemia. In theory,
they would restore enzyme function, thus preventing downstream pathological consequences. In
practice, no PCs have been identified for potential application in galactosemia. Here, we review the
biochemical basis of the disease, identify opportunities for the application of PCs and describe how
these might be discovered. We will conclude by considering some of the clinical issues which will
affect the future use of PCs in the treatment of galactosemia.},
organization = {ERDF/Spanish Ministry of Science, Innovation and Universities-State Research Agency 

RTI2018-096246-B-I00},
organization = {FEDER/Junta de Andalucía - Consejería de Transformación Económica, Industria, Conocimiento y Universidades 

P18-RT-2413},
publisher = {Mdpi},
keywords = {Galactose metabolism},
keywords = {Enzymes},
keywords = {Protein misfolding},
keywords = {Protein degradation},
keywords = {Ligand binding},
keywords = {Galactose 1-phosphate uridylyltransferase},
keywords = {Galactokinase},
keywords = {UDP-galactose 40-epimerase},
keywords = {Galactose mutarotase},
keywords = {Drug screening},
title = {Galactosemia: Towards Pharmacological Chaperones},
doi = {10.3390/jpm11020106},
author = {Banford, Samantha and McCorvie, Thomas J. and Timson, David J.},
}