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Neurology Genetics
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February 2017; 3 (1) Clinical/Scientific NotesOpen Access

Everolimus does not prevent Lafora body formation in murine Lafora disease

Navin Mishra, Peixiang Wang, Danielle Goldsmith, Xiaochu Zhao, Yunlin Xue, Uwe Christians, Berge A. Minassian
First published January 9, 2017, DOI: https://doi.org/10.1212/NXG.0000000000000127
Navin Mishra
From the Department of Paediatrics (Neurology) (N.M., B.A.M.) and Program in Genetics and Genome Biology (P.W., D.G., X.Z., Y.X., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; and iC42 Clinical Research and Development (U.C.), Department of Anesthesiology, University of Colorado, Denver.
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Peixiang Wang
From the Department of Paediatrics (Neurology) (N.M., B.A.M.) and Program in Genetics and Genome Biology (P.W., D.G., X.Z., Y.X., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; and iC42 Clinical Research and Development (U.C.), Department of Anesthesiology, University of Colorado, Denver.
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Danielle Goldsmith
From the Department of Paediatrics (Neurology) (N.M., B.A.M.) and Program in Genetics and Genome Biology (P.W., D.G., X.Z., Y.X., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; and iC42 Clinical Research and Development (U.C.), Department of Anesthesiology, University of Colorado, Denver.
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Xiaochu Zhao
From the Department of Paediatrics (Neurology) (N.M., B.A.M.) and Program in Genetics and Genome Biology (P.W., D.G., X.Z., Y.X., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; and iC42 Clinical Research and Development (U.C.), Department of Anesthesiology, University of Colorado, Denver.
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Yunlin Xue
From the Department of Paediatrics (Neurology) (N.M., B.A.M.) and Program in Genetics and Genome Biology (P.W., D.G., X.Z., Y.X., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; and iC42 Clinical Research and Development (U.C.), Department of Anesthesiology, University of Colorado, Denver.
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Uwe Christians
From the Department of Paediatrics (Neurology) (N.M., B.A.M.) and Program in Genetics and Genome Biology (P.W., D.G., X.Z., Y.X., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; and iC42 Clinical Research and Development (U.C.), Department of Anesthesiology, University of Colorado, Denver.
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Berge A. Minassian
From the Department of Paediatrics (Neurology) (N.M., B.A.M.) and Program in Genetics and Genome Biology (P.W., D.G., X.Z., Y.X., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; and iC42 Clinical Research and Development (U.C.), Department of Anesthesiology, University of Colorado, Denver.
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Citation
Everolimus does not prevent Lafora body formation in murine Lafora disease
Navin Mishra, Peixiang Wang, Danielle Goldsmith, Xiaochu Zhao, Yunlin Xue, Uwe Christians, Berge A. Minassian
Neurol Genet Feb 2017, 3 (1) e127; DOI: 10.1212/NXG.0000000000000127

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    Figure Lafora bodies, glycogen content, glycogen-metabolizing enzyme activities, and autophagy markers are unaltered in 3-month-old laforin-deficient mice treated with everolimus from age 1 month

    (A) Representative brain cortical (A.a) and skeletal muscle (A.b) sections stained with periodic acid–Schiff–diastase for detection of Lafora bodies (arrows). (B) Western blots on skeletal muscle extracts with antibodies against glycogen synthase (GS), phosphorylated GS (pGS), and glycogen phosphorylase (GP), and autophagy markers p62 and LC3. Glyceraldehyde 3-phosphate dehydrogenase (Ga) is the loading control for each blot. (C) Skeletal muscle glycogen content in millimoles per gram of tissue. (D) GS activity ratio, i.e., GS activity with no added G6P (G6P is the potent allosteric activator of GS) divided by GS activity with 7.2 mM G6P (the latter resulting in maximal activation of GS). This ratio conveys how much of total potential existing GS activity in the tissue is actually active, i.e., the enzyme's activation state (ratio). (E) Components of the above ratio (i.e., separate activities with no G6P or with 7.2 mM G6P) in nanomoles per minute per milligram of protein. (F) GP (a glycogen-degrading enzyme) activity ratio (±3 mM of the GP allosteric activator adenosine monophosphate). n = 6 for all experiments (e-Methods).

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