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Xiaochu Zhao

University of Toronto

31

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1541

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Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease.

2021 Brain
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A novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.

2021 Neurology Asia
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Retinal Phenotyping of a murine model of Lafora Disease

2021 Investigative Ophthalmology & Visual Science
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Exploiting toxin internalization receptors to enhance delivery of proteins to lysosomes for enzyme replacement therapy

2020
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GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.

2020 Annals of clinical and translational neurology
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Everolimus does not prevent Lafora body formation in murine Lafora disease

2017 Neurology Genetics
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Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

2017 Embo Molecular Medicine
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PTG protein depletion rescues malin‐deficient Lafora disease in mouse

2014 Annals of Neurology
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Hyperphosphorylation of Glucosyl C6 Carbons and Altered Structure of Glycogen in the Neurodegenerative Epilepsy Lafora Disease

2013 Cell Metabolism
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PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.

2011 PLOS Genetics
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Citations (103)