Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease. (Q43017536)

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5 February 2020

title

Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease (English)

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11

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Robert J Mattaliano

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5 February 2020

author name string

Karen M Ashe

1

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5 February 2020

Kristin M Taylor

2

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5 February 2020

Qiuming Chu

3

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5 February 2020

Elizabeth Meyers

4

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5 February 2020

Allen Ellis

5

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5 February 2020

Varvara Jingozyan

6

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5 February 2020

Katherine Klinger

7

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5 February 2020

Patrick F Finn

8

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5 February 2020

Christopher G F Cooper

9

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5 February 2020

Wei-Lien Chuang

10

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5 February 2020

John M McPherson

12

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5 February 2020

Seng H Cheng

14

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5 February 2020

Ronald K Scheule

15

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Rodney J Moreland

16

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5 February 2020

publication date

5 May 2010

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Molecular Genetics and Metabolism

5 February 2020

published in

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5 February 2020

volume

100

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5 February 2020

page(s)

309-315

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5 February 2020

issue

4

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5 February 2020

1 reference

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Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study

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Glycogen storage disease types I and II: treatment updates

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Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial

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Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

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Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

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Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

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Pompe disease: a neuromuscular disease with respiratory muscle involvement

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Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses

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Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.

7 January 2021

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Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.

7 January 2021

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Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

7 January 2021

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Regulation of both glycogen synthase and PHAS-I by insulin in rat skeletal muscle involves mitogen-activated protein kinase-independent and rapamycin-sensitive pathways

7 January 2021

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Control of glycogen synthesis in cultured human muscle cells

7 January 2021

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Rapamycin-mediated inhibition of mammalian target of rapamycin in skeletal muscle cells reduces glucose utilization and increases fatty acid oxidation

7 January 2021

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Regulation of glycogen synthesis by amino acids in cultured human muscle cells.

7 January 2021

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The TSC-mTOR pathway mediates translational activation of TOP mRNAs by insulin largely in a raptor- or rictor-independent manner

7 January 2021

1 reference

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Targeting mammalian target of rapamycin (mTOR) for health and diseases.

7 January 2021

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Upstream and downstream of mTOR

7 January 2021

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Regulation of muscle glycogen synthase phosphorylation and kinetic properties by insulin, exercise, adrenaline and role in insulin resistance.

7 January 2021

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Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

7 January 2021

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Bifurcation of insulin signaling pathway in rat liver: mTORC1 required for stimulation of lipogenesis, but not inhibition of gluconeogenesis

7 January 2021

1 reference

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Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

7 January 2021

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Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease

7 January 2021

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mTOR and the control of whole body metabolism

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Elimination of antibodies to recombinant enzyme in Pompe's disease.

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Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

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FoxO3 controls autophagy in skeletal muscle in vivo

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