(Q46933122)

English

Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PD(Plymouth) and G6PD(Mahidol): Evidence for defective protein folding as the basis of disease

scientific article published on 23 October 2007

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scholarly article

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PD(Plymouth) and G6PD(Mahidol): Evidence for defective protein folding as the basis of disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

protein folding

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author name string

Yuxiang Huang

1

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

Mei Yee Choi

2

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

Shannon Wing Ngor Au

3

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

Deborah Man Yee Au

4

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

Veronica Min Sien Lam

5

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

Paul C Engel

6

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

publication date

23 October 2007

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

Molecular Genetics and Metabolism

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

93

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

1

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

44-53

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

Functional properties of two mutants of human glucose 6-phosphate dehydrogenase, R393G and R393H, corresponding to the clinical variants G6PD Wisconsin and Nashville

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

Protein misfolding, aggregation, and degradation in disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression

1 reference

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7 January 2021

Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein.

1 reference

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7 January 2021

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships

1 reference

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7 January 2021

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

1 reference

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7 January 2021

Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency.

1 reference

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7 January 2021

Recombinant human glucose-6-phosphate dehydrogenase. Evidence for a rapid-equilibrium random-order mechanism

1 reference

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7 January 2021

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

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7 January 2021

Structural studies of glucose-6-phosphate and NADP+ binding to human glucose-6-phosphate dehydrogenase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

Improved methods for building protein models in electron density maps and the location of errors in these models

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

Protein misfolding and degradation in genetic diseases.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

Quality control of protein folding in extracellular space

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.122

7 January 2021

Genetic variation of glucose-6-phosphate dehydrogenase: a catalog and future prospects

1 reference

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7 January 2021

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10.1016/J.YMGME.2007.08.122

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17959407

ResearchGate publication ID

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