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Kinetic properties of missense mutations in patients with glutathilone synthetase deficiency

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Date

2000

Authors

Njalsson, Runa
Carlsson, Katarina
Olin, B
Carlsson, B
Whitbread, L
Polekhina, Galina
Parker, Michael William
Norgren, Svante
Mannervik, Bengt
Board, Philip

Journal Title

Journal ISSN

Volume Title

Publisher

Portland Press

Abstract

Patients with hereditary glutathione synthetase (GS) (EC 6.3.2.3) deficiency present with variable clinical pictures, presumably related to the nature of the mutations involved. In order to elucidate the relationship between genotype, enzyme function and

Description

Keywords

Keywords: glutathione synthase; glycine; article; controlled study; crystal structure; enzyme deficiency; enzyme stability; genotype; human; human cell; Michaelis Menten kinetics; missense mutation; phenotype; priority journal; Chromatography, Agarose; Glutathione ?-glutamyl cycle; 5-Oxoprolinuria; Haemolytic anaemia

Citation

URI

http://hdl.handle.net/1885/89580

Collections

ANU Research Publications

Source

Biochemical Journal

Type

Journal article

Book Title

Entity type

Access Statement

License Rights

DOI

10.1042/0264-6021:3490275

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