Xiaochu Zhao

发表

An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice

F. Nitschke, Peixiang Wang, S. Ahonen, 2020, The Journal of biological chemistry.

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

P. Bovolenta, S. Rodríguez de Córdoba, F. Nitschke, 2017, EMBO molecular medicine.

Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.

P. Schmieder, F. Nitschke, M. Steup, 2013, Cell metabolism.

Deficiency of a Glycogen Synthase-associated Protein, Epm2aip1, Causes Decreased Glycogen Synthesis and Hepatic Insulin Resistance*

C. Ackerley, P. Frankland, A. Wheeler, 2013, The Journal of Biological Chemistry.

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

S. Scherer, B. Minassian, E. Chan, 2004, Human mutation.

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.

F. Nitschke, Peixiang Wang, B. Minassian, 2019, Cell reports.

Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease

F. Nitschke, Peixiang Wang, S. Ahonen, 2021, bioRxiv.

Ketogenic diet reduces Lafora bodies in murine Lafora disease

Peixiang Wang, B. Minassian, Xiaochu Zhao, 2020, Neurology: Genetics.

Increased Laforin and Laforin Binding to Glycogen Underlie Lafora Body Formation in Malin-deficient Lafora Disease*

C. Ackerley, Peixiang Wang, B. Minassian, 2012, The Journal of Biological Chemistry.

Exploiting toxin internalization receptors to enhance delivery of proteins to lysosomes for enzyme replacement therapy

J. Rini, P. Kim, B. Minassian, 2020, bioRxiv.

Everolimus does not prevent Lafora body formation in murine Lafora disease

U. Christians, Peixiang Wang, B. Minassian, 2017, Neurology: Genetics.

PTG protein depletion rescues malin‐deficient Lafora disease in mouse

C. Ackerley, P. Frankland, J. Epp, 2014, Annals of neurology.

Inhibiting glycogen synthesis prevents lafora disease in a mouse model

C. Ackerley, P. Frankland, J. Epp, 2013, Annals of neurology.

PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease

C. Ackerley, M. Cortez, A. Depaoli-Roach, 2011, PLoS genetics.

Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.

S. Scherer, B. Minassian, L. Ianzano, 2003, Genomics.

Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease.

F. Nitschke, Peixiang Wang, S. Ahonen, 2021, Brain : a journal of neurology.

Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease

F. Nitschke, Peixiang Wang, B. Minassian, 2020, Journal of neurochemistry.

Mutations in NHLRC1 cause progressive myoclonus epilepsy

S. Scherer, C. Ackerley, G. Avanzini, 2003, Nature Genetics.

Early-onset Lafora body disease.

S. Scherer, C. Ackerley, Peixiang Wang, 2012, Brain : a journal of neurology.

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.

S. Scherer, C. Ackerley, H. Lohi, 2005, Human molecular genetics.

Glycogen hyperphosphorylation underlies lafora body formation

C. Ackerley, Peixiang Wang, B. Minassian, 2010, Annals of neurology.

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo

A. Delgado-Escueta, A. Depaoli-Roach, P. Roach, 2007, Proceedings of the National Academy of Sciences.

Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease*

A. Depaoli-Roach, P. Roach, V. Tagliabracci, 2008, Journal of Biological Chemistry.

Expanded Repeat in Canine Epilepsy

Catherine André, Hannes Lohi, Clare Rusbridge, 2005, Science.

Lafora progressive myoclonus epilepsy mutation database‐EPM2A and NHLRC1 (EMP2B) genes

S. Scherer, Junjun Zhang, H. Lohi, 2005, Human mutation.

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.

F. Nitschke, Peixiang Wang, S. Ahonen, 2022, Brain : a journal of neurology.

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

A. Depaoli-Roach, P. Roach, Peixiang Wang, 2020, Annals of clinical and translational neurology.

Phosphorylation prevents polyglucosan transport in Lafora disease

Afra H. Wang, C. Ackerley, P. Frankland, 2012, Neurology.

Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration

C. Ackerley, F. Nitschke, Peixiang Wang, 2018, bioRxiv.

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

K. Lindblad-Toh, J. Rilstone, M. Webster, 2011, PLoS genetics.

LGI 2 Truncation Causes a Remitting Focal Epilepsy in Dogs Seppälä

K. Lindblad-Toh, J. Rilstone, M. Webster, 2022 .

Retinal Phenotyping of a Murine Model of Lafora Disease

K. Ahmed, B. Minassian, A. Vincent, 2023, Genes.

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

Muhammad Faheem, Arsalan Ahmad, Xiaochu Zhao, 2021, Neurology Asia.

Early-onset Lafora body disease.

S. Scherer, C. Ackerley, Peixiang Wang, 2012, Brain : a journal of neurology.