Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants-Reference-Cited by-同舟云学术

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Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants

Published:2017-03 Issue:11 Volume:18 Page:2592-2599
ISSN:2211-1247
Container-title:Cell Reports
language:en
Short-container-title:Cell Reports

Author:

Cunningham Anna D.,Colavin Alexandre,Huang Kerwyn Casey,Mochly-Rosen Daria

Funder

NIH

NSF CAREER

Stanford Center for Systems Biology

Stanford

Gerald J. Lieberman

NSF

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology

Reference44 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency;Au;Structure,2000

3. Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia;Benmansour;Blood Cells Mol. Dis.,2013

4. Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase (G6PD) variants, G6PDViangchan and G6PDViangchan+Mahidol: decreased stability and catalytic efficiency contribute to the clinical phenotype;Boonyuen;Mol. Genet. Metab.,2016

5. Glucose-6-phosphate dehydrogenase deficiency;Cappellini;Lancet,2008

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1. Analytical and operational considerations of measuring glucose 6-phosphate dehydrogenase (G6PD) activity using a fully automated assay;American Journal of Clinical Pathology;2024-08-17

2. Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China;Frontiers in Genetics;2024-07-15

3. COMPUTATIONAL ANALYSIS OF DIMER G6PD STRUCTURE TO ELUCIDATE PATHOGENICITY OF G6PD VARIANTS;BioMedicine;2024-02-28

4. Acetylation-dependent coupling between G6PD activity and apoptotic signaling;Nature Communications;2023-10-05

5. The pentose phosphate pathway in health and disease;Nature Metabolism;2023-08-23

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