Disturbed cofactor binding by a novel mutation in UDP-galactose 4′-epimerase results in a type III galactosemia phenotype at birth-Reference-Cited by-同舟云学术

Disturbed cofactor binding by a novel mutation in UDP-galactose 4′-epimerase results in a type III galactosemia phenotype at birth

Published:2016 Issue:21 Volume:6 Page:17297-17301
ISSN:2046-2069
Container-title:RSC Advances
language:en
Short-container-title:RSC Adv.

Author:

Paul Stephanie¹²³⁴⁵,McCorvie Thomas J.¹²³⁴⁵,Zschocke Johannes⁶⁷⁸⁹,Timson David J.¹²³⁴⁵

Affiliation:

1. School of Biological Sciences

2. Queen's University Belfast

3. Medical Biology Centre

4. Belfast

5. UK

6. Division of Human Genetics

7. Innsbruck Medical University

8. Innsbruck 6020

9. Austria

Abstract

The p.A89V variant of UDP-galactose 4′-epimerase (GALE) is less stable and has lower affinity for the NAD⁺cofactor than the wild-type enzyme.

Funder

Department of Education and Learning, Northern Ireland

Publisher

Royal Society of Chemistry (RSC)

Subject

General Chemical Engineering,General Chemistry

Link

http://pubs.rsc.org/en/content/articlepdf/2016/RA/C6RA00306K

Reference35 articles.

1. Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.

2. Human UDP-Galactose 4′ Epimerase (GALE) Gene and Identification of Five Missense Mutations in Patients with Epimerase-Deficiency Galactosemia

3. The structural and molecular biology of type III galactosemia

4. The enzymatic transformation of uridine diphosphate glucose into a galactose derivative

5. T. J. McCorvie and D. J.Timson, in Handbook of Glycosyltransferases and Related Genes, ed. N. Taniguchi, K. Honke, M. Fukuda, H. Narimatsu, Y. Yamaguchi and T. Angata, Springer, New York, 2014, vol. 2, ch. 133

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