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Glucose–6–phosphatase dependent substrate transport in the glycogen storage disease type–1a mouse

Nature Genetics volume 13, pages 203–209 (1996)Cite this article

Abstract

Glycogen storage disease type 1a (GSD–1a) is caused by a deficiency in microsomal glucose–6–phosphatase (G6Pase), the key enzyme in glucose homeostasis. A G6Pase knockout mouse which mimics the pathophysiology of human GSD–1 a patients was created to understand the pathogenesis of this disorder, to delineate the mechanisms of G6Pase catalysis, and to develop future therapeutic approaches. By examining G6Pase in the liver and kidney, the primary gluconeogenic tissues, we demonstrate that glucose–6–P transport and hydrolysis are performed by separate proteins which are tightly coupled. We propose a modified translocase catalytic unit model for G6Pase catalysis

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Author information

Author notes

  1. Bedrich Mosinger Jr. Jr.

    Present address: Laboratory of Molecular Genetics, Institute for Mother and Child Care, Prague, Czech Republic

  2. Ke-Jian Lei, Hungwen Chen and Chi-Jiunn Pan: K-J.L., H.C. & C-J.P. contributed equally to this work.

Affiliations

  1. Heritable Disorders Branch National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, 20892, USA

    Ke-Jian Lei, Hungwen Chen, Chi-Jiunn Pan, Brian C. Mansfield & Janice Yang Chou

  2. Laboratory of Mammalian Genes and Development, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, 20892, USA

    Bedrich Mosinger Jr. Jr., Eric J. Lee & Heiner Westphal

  3. Veterinary and Tumor Pathology Section, Office of Laboratory Animal Science, National Cancer Institute, Frederick, Maryland, 21702, USA

    Jerrold M. Ward

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  1. Ke-Jian Lei
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  2. Hungwen Chen
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  3. Chi-Jiunn Pan
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  5. Bedrich Mosinger Jr. Jr.
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  9. Janice Yang Chou
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Lei, KJ., Chen, H., Pan, CJ. et al. Glucose–6–phosphatase dependent substrate transport in the glycogen storage disease type–1a mouse. Nat Genet 13, 203–209 (1996). https://doi.org/10.1038/ng0696-203

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