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Neuropediatrics, ISSN 0174-304X, 12/2018, Volume 49, Issue 6, pp. 357 - 362
Abstract Lafora's disease is a neurodegenerative disorder caused by recessive loss-of-function mutations in the EPM2A (laforin glycogen phosphatase) or EPM2B... 
Review Article | UNDERLIES | Lafora Disease | PHOSPHATASE | DEPLETION | ASTROCYTES | CLINICAL NEUROLOGY | POLYGLUCOSAN BODY DISEASE | GLYCOGEN | polyglucosan body | BODIES | HYPERPHOSPHORYLATION | PEDIATRICS | ACCUMULATION | MUTATIONS | progressive myoclonus epilepsy
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 10/2013, Volume 127, Issue 1, pp. 101 - 113
Uncontrolled elongation of glycogen chains, not adequately balanced by their branching, leads to the formation of an insoluble, presumably neurotoxic, form of... 
adult polyglucosan body disease | glycogen branching enzyme | glycogen synthase | polyglucosan bodies | autophagy | polyglucosan | FORM | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUSCLE | STORAGE-DISEASE | ASTROCYTES | NEUROSCIENCES | MOUSE MODEL | NEURONS | ENERGY-METABOLISM | BINDING | LAFORIN | 1,4-alpha-Glucan Branching Enzyme - drug effects | RNA, Small Interfering - genetics | Enzyme Inhibitors | Phosphorylation | Neurotoxicity Syndromes - genetics | TOR Serine-Threonine Kinases - metabolism | Apoptosis - drug effects | Humans | Cerebral Cortex - cytology | Cerebral Cortex - metabolism | Starvation - metabolism | TOR Serine-Threonine Kinases - antagonists & inhibitors | Adenosine Triphosphate - metabolism | RNA, Small Interfering - biosynthesis | 1,4-alpha-Glucan Branching Enzyme - genetics | Female | Glycogen Synthase - antagonists & inhibitors | Cerebral Cortex - drug effects | Glucans - toxicity | Real-Time Polymerase Chain Reaction | Fibroblasts - metabolism | Lymphocytes - metabolism | Transduction, Genetic | Rats | Neurotoxicity Syndromes - prevention & control | Glycogen Storage Disease - metabolism | Neurotoxicity Syndromes - enzymology | Animals | Fibroblasts - drug effects | Lymphocytes - drug effects | Aged | Primary Cell Culture | Microscopy, Fluorescence | Glucose metabolism | Enzymes | Starvation | Synthesis | RNA | Glycogen | Analysis | Neurochemistry | Neurotoxicity | Binding sites | Index Medicus | Apoptosis
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 02/2019, Volume 90, Issue 2, pp. 124 - 124
Correspondence to Dr Haruki Koike, Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan;... 
neurofascin | amyloid | amyloidosis | pathology | polyglucosan body | lymphoma | biopsy | CIDP | neurolymphomatosis | Morphology
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 04/2018, Volume 28, Issue 4, pp. 346 - 349
An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next... 
Limb girdle muscle weakness | Progressive muscle weakness | Glycogen storage disease | Polyglucosan body myopathy | Muscles | Youth | Teenagers
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 2017, Volume 58, Issue 8, pp. 1598 - 1612
Journal Article
Revue Neurologique, ISSN 0035-3787, 10/2016, Volume 172, Issue 10, pp. 541 - 545
The field of glycogenosis has been greatly expanded over the past few years with the discovery of new metabolic diseases that have allowed new metabolic... 
GYS1 | Glycogenin-1 | Glycogen synthase | Polyglucosan body | Muscle glycogenosis | RBCK1 | GYG1 | PGM1 | Phosphoglucomutase | MRI | POLYGLUCOSAN BODY MYOPATHY | MUSCLE | CLINICAL NEUROLOGY | Glycogen Storage Disease - pathology | Muscle, Skeletal - pathology | Glycogen Storage Disease - genetics | Glycogen Storage Disease - therapy | Humans
Journal Article
MUSCLE & NERVE, ISSN 0148-639X, 03/2016, Volume 53, Issue 3
Introduction: Adult polyglucosan body disease (APBD) is associated with formation of polyglucosan bodies in peripheral nerve branches. Some muscle biopsies... 
storage disease | peripheral nerve | GBE1 | INVOLVEMENT | adult polyglucosan body disease | glycogen | muscle biopsy | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Expert Opinion on Orphan Drugs, ISSN 2167-8707, 12/2017, Volume 5, Issue 12, pp. 977 - 982
Introduction: Glycogen storage disorders (GSDs) are mainly caused by over-accumulation of normal or malconstructed glycogen. A few GSDs, Adult Polyglucosan... 
polyglucosan bodies | Glycogen storage disorders | glycogen | image-based high throughput screening | polyglucosan | MUSCLE | BRANCHING ENZYME DEFICIENCY | SYNTHASE | DISEASE TYPE-IV | LAFORA DISEASE | INHIBITION | THERAPY | MUTATION | BODIES | PHARMACOLOGY & PHARMACY | POMPE DISEASE
Journal Article
Journal Article
2018, ISBN 0128023953, Volume 145
Neurometabolic and neurodegenerative diseases in children (NDDC) differ from those in adults in that most of the former are autosomal-recessively inherited –... 
multiorgan involvement | anabolic and catabolic conditions | extracerebral diagnostic biopsies | peroxisomal | leukodystrophies | polyglucosan diseases | lysosomal
Book Chapter
Cell Reports, ISSN 2211-1247, 04/2019, Volume 27, Issue 5, pp. 1334 - 1344.e6
Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen.... 
malin | laforin | glycogen chain length distribution | glycogen storage disease | glycogen branching enzyme | glycogen synthase | polyglucosan bodies | phosphorylation | Lafora disease | APBD | METABOLISM | PHOSPHORYLATION | PHOSPHATASE | BODIES | ACCUMULATION | BETA-PARTICLES | BODY FORMATION | LAFORIN | MYOCLONUS EPILEPSY | DEFICIENCY | CELL BIOLOGY
Journal Article