Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression

Open Access

Peer-reviewed

Research Article

Kayla A. Boortz,

Affiliation Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennesse, 37232, United States of America
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Kristen E. Syring,

Affiliation Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennesse, 37232, United States of America
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Lynley D. Pound,

Affiliation Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennesse, 37232, United States of America
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Yingda Wang,

Affiliation Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennesse, 37232, United States of America
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James K. Oeser,

Affiliation Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennesse, 37232, United States of America
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Richard M. O’Brien

* E-mail: richard.obrien@vanderbilt.edu

Affiliation Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennesse, 37232, United States of America
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Protein expression
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Fusion genes
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Gene expression
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Single nucleotide polymorphisms
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Transfection
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Glucose
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Glycogen storage diseases
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Amino acid analysis
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