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Lookup NU author(s): Dr Sabrina MackinnonORCiD,
Dr Thomas McCorvieORCiD
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This project describes a drug discovery plan for Classic Galactosemia, a rare disorder of galactose metabolism where there is currently no disease-transforming therapy. This TEP provides the protein reagents, biophysical assays, and structural information to facilitate two aspects of galactosemia research: (i) to understand the molecular basis of the disease due to defective GALT enzyme, and (ii) to provide chemical starting points to explore metabolic intervention of the upstream enzyme GALK1 aimed at mitigating the GALT defect (substrate reduction).
Author(s): Arruda Bezerra G, MacKinnon S, McCorvie T, Zhang M, Foster W, Fairhead M, Tumber A, Strain-Damerell C, Kopec J, Fitzpatrick F, Tang M, Whitby F, Lai K, Hill CP, Yue WW
Publication type: Online Publication
Publication status: Published
Access Year: 2022
Acceptance date: 15/12/2018
Place Published: Geneva
Access Date: 8 April