Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PDPlymouth and G6PDMahidol: Evidence for defective protein folding as the basis of disease-Reference-Cited by-同舟云学术

Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PDPlymouth and G6PDMahidol: Evidence for defective protein folding as the basis of disease

Published:2008-01 Issue:1 Volume:93 Page:44-53
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Huang Yuxiang,Choi Mei Yee,Au Shannon Wing Ngor,Au Deborah Man Yee,Lam Veronica Min Sien,Engel Paul C.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference35 articles.

1. G6PD deficiency;Beutler;Blood,1994

2. Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO Scientific Group;Betke;WHO Tech. Rep. Ser.,1967

3. G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population;Louicharoen;J. Hum. Genet.,2005

4. G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations;Kwok;Hum. Mutat.,2002

5. Marked decrease in specific activity contributes to disease phenotype in two human glucose 6-phosphate dehydrogenase mutants, G6PD(Union) and G6PD(Andalus);Wang;Hum. Mutat.,2005

Cited by 39 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population;International Journal of Molecular Sciences;2023-08-11

2. Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency;Clinical Biochemistry;2022-11

3. Human G6PD variant structural studies: Elucidating the molecular basis of human G6PD deficiency;Gene Reports;2022-06

4. Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity;Frontiers in Pediatrics;2022-05-24

5. Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency among Malaria Patients in Southern Thailand: 8 Years Retrospective Study;The Korean Journal of Parasitology;2022-02-23