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

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

G6PD deficiency, an enzymopathy affecting 7% of the world population, is caused by over 160 identified amino acid variants in glucose-6-phosphate dehydrogenase (G6PD). The clinical presentation of G6PD deficiency is diverse, likely due to the broad distribution of variants across the protein and the...

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Bibliographic Details
Main Authors: Anna D. Cunningham, Alexandre Colavin, Kerwyn Casey Huang, Daria Mochly-Rosen
Format: Article
Language:English
Published: Elsevier 2017-03-01
Series:Cell Reports
Subjects:
G6PD
G6PD deficiency
enzymopathy
missense variants
ExAC database
PCA
variants of unknown significance
VUS
protein stability
enzyme activity
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124717302462

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http://www.sciencedirect.com/science/article/pii/S2211124717302462

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