Article
Insights into Krabbe disease from structures of galactocerebrosidase.
Proceedings of the National Academy of Sciences of the United States of America - 13 Sept 2011
Deane Janet E, Graham Stephen C, Kim Nee Na, Stein Penelope E, McNair Rosamund, Cachón-González M Begoña, Cox Timothy M, Read Randy J
Abstract excerpt
Krabbe disease is a devastating neurodegenerative disease characterized by widespread demyelination that is caused by defects in the enzyme galactocerebrosidase (GALC). Disease-causing mutations have been identified throughout the GALC gene. However, a molecular understanding of the effect of these mutations has been hampered by the lack of structural data for this enzyme. Here we present the crystal structures...
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