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Human Galactose-1-phosphate Uridylyltransferase (GALT), Galactokinase 1 (GALK1); A Target Enabling Package

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).

Publication metadata

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

Series Title:

Year: 2018

Access Year: 2022

Acceptance date: 15/12/2018

Publisher: Zenodo

Place Published: Geneva

Access Date: 8 April


DOI: 10.5281/zenodo.3234909