GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Discovery and development of small-molecule inhibitors of glycogen synthase

(2020) Buyun Tang et al.   JOURNAL OF MEDICINAL CHEMISTRY

Glycogen metabolism regulates macrophage-mediated acute inflammatory responses

(2020) Jingwei Ma et al.   Nature Communications

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

(2019) Mitchell A. Sullivan et al.   Cell Reports

Understanding the Heterogeneity of Resident Liver Macrophages

(2019) Camille Blériot et al.   Frontiers in Immunology

Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease

(2018) Elisabet Augé et al.   GLIA

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy

(2017) Haiqing Yi et al.   HUMAN GENE THERAPY

Single-cell spatial reconstruction reveals global division of labour in the mammalian liver

(2017) Keren Bahar Halpern et al.   NATURE

Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse

(2016) Ye Zhang et al.   NEURON

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

(2015) D. Sean Froese et al.   HUMAN MOLECULAR GENETICS

A novel mouse model that recapitulates adult-onset glycogenosis type 4

(2015) H. Orhan Akman et al.   HUMAN MOLECULAR GENETICS

Polyglucosan storage myopathies

(2015) Carola Hedberg-Oldfors et al.   MOLECULAR ASPECTS OF MEDICINE

Deep IntronicGBE1Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease

(2015) H. Orhan Akman et al.   JAMA Neurology

PTG protein depletion rescues malin-deficient Lafora disease in mouse

(2014) Julie Turnbull et al.   ANNALS OF NEUROLOGY

Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease

(2014) J. Duran et al.   HUMAN MOLECULAR GENETICS

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Inhibiting glycogen synthesis prevents lafora disease in a mouse model

(2013) Bartholomew A Pederson et al.   ANNALS OF NEUROLOGY

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

(2012) Fanny Mochel et al.   ANNALS OF NEUROLOGY

Glycogen and its metabolism: some new developments and old themes

(2012) Peter J. Roach et al.   BIOCHEMICAL JOURNAL

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

(2011) Julie Turnbull et al.   PLoS Genetics