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The Journal of Pathology, ISSN 0022-3417, 09/2015, Volume 237, Issue 1, pp. 98 - 110
GM1 gangliosidosis (GM1) is an inherited neurodegenerative disorder caused by mutations in the lysosomal β‐galactosidase (β‐gal) gene. Insufficient β‐gal... 
human disease model | induced pluripotent stem cells | GM1 gangliosidosis | neural progenitor cells | inflammasome | SOMATIC-CELLS | NEURAL ROSETTES | MOUSE | PATHOLOGY | PATHOGENESIS | UNFOLDED PROTEIN RESPONSE | G(M1)-GANGLIOSIDOSIS | ONCOLOGY | NLRP3 | DIFFERENTIATION | ACCUMULATION | BRAIN | Gangliosidosis, GM1 - metabolism | Inflammasomes - metabolism | Humans | Gangliosidosis, GM1 - immunology | Cellular Reprogramming | Neural Stem Cells - immunology | Lysosomes - metabolism | Inflammasomes - antagonists & inhibitors | Time Factors | Cell Shape | beta-Galactosidase - metabolism | Neural Stem Cells - transplantation | Interleukin 1 Receptor Antagonist Protein - pharmacology | Induced Pluripotent Stem Cells - metabolism | Biomarkers - metabolism | Induced Pluripotent Stem Cells - pathology | Cell Line | Induced Pluripotent Stem Cells - drug effects | Signal Transduction | Induced Pluripotent Stem Cells - transplantation | Mice, Inbred C57BL | Neural Stem Cells - drug effects | Gangliosidosis, GM1 - pathology | Genotype | Neural Stem Cells - pathology | Phenotype | Animals | Inflammasomes - immunology | Induced Pluripotent Stem Cells - immunology | Neural Stem Cells - metabolism | Immunologic Factors - pharmacology | Nervous system diseases | DNA microarrays | Analysis | Models | Cell differentiation | Embryonic stem cells | Intermediate filament proteins | Gangliosides
Journal Article
Journal Article
Experimental Neurology, ISSN 0014-4886, 01/2012, Volume 233, Issue 1, pp. 534 - 542
Autoantibodies against gangliosides GM1 or GD1a are associated with acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN),... 
Acute motor axonal neuropathy | Node of Ranvier | Autoantibody | Acute sensory ataxic neuropathy | Ganglioside | NERVE-FIBERS | ANTI-GM1 ANTIBODIES | GUILLAIN-BARRE-SYNDROME | SENSORY ATAXIC NEUROPATHY | HIGH-AFFINITY | RABBIT MODEL | CONDUCTION BLOCK | NEUROSCIENCES | SODIUM-CHANNEL CLUSTERS | IMMUNE NEUROPATHIES | MOTOR AXONAL NEUROPATHY | Gangliosidosis, GM1 - immunology | Ranvier's Nodes - metabolism | Choline O-Acetyltransferase - metabolism | Ranvier's Nodes - ultrastructure | Polyneuropathies - chemically induced | Time Factors | Spinal Cord - pathology | Injections, Subcutaneous | Statistics, Nonparametric | Sciatic Nerve - cytology | Neural Conduction - drug effects | Sciatic Nerve - drug effects | Spectrin - metabolism | Disease Models, Animal | Microscopy, Electron, Transmission | Rabbits | Acute Disease | Complement C3 - metabolism | Rats | Neural Conduction - physiology | Antibodies - adverse effects | Ganglia, Spinal - ultrastructure | Ranvier's Nodes - drug effects | Polyneuropathies - physiopathology | Rats, Sprague-Dawley | Gangliosides - immunology | Animals | Ganglia, Spinal - drug effects | Ganglia, Spinal - metabolism | Autoimmunity | Biological products | Gangliosides | Analysis | Immunoglobulin G | Invisibility | autoantibody | acute sensory ataxic neuropathy | acute motor axonal neuropathy | node of Ranvier | ganglioside
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2008, Volume 94, Issue 2, pp. 204 - 211
GM1 gangliosidosis is an inherited neurodegenerative disorder caused by lysosomal β-galactosidase deficiency, resulting in the storage of GM1 and GA1,... 
N-Butyldeoxynojirimycin | Glycosphingolipid | Imino sugar | GA1 | N-Butyldeoxygalactonojirimycin | GM1 | Lysosomal storage disease | Miglustat | GM1 gangliosidosis | Substrate reduction therapy | STORAGE | MEDICINE, RESEARCH & EXPERIMENTAL | GLYCOLIPID BIOSYNTHESIS | imino sugar | lysosomal storage disease | GLUCOSYLCERAMIDE SYNTHASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | PREVENTION | glycosphingolipid | SANDHOFF-DISEASE MICE | N-butyldeoxynojirimycin | GENETICS & HEREDITY | BETA-GALACTOSIDASE | substrate reduction therapy | N-butyldeoxygalactonojirimycin | miglustat | ACCUMULATION | INHIBITOR | BUTYLDEOXYGALACTONOJIRIMYCIN | Gangliosidosis, GM1 - metabolism | Gangliosidosis, GM1 - physiopathology | Humans | Motor Activity - drug effects | Protein Transport - drug effects | Gangliosidosis, GM1 - immunology | Brain - metabolism | Enzyme Inhibitors - administration & dosage | 1-Deoxynojirimycin - therapeutic use | Glucosyltransferases - metabolism | beta-Galactosidase - metabolism | 1-Deoxynojirimycin - administration & dosage | 1-Deoxynojirimycin - analogs & derivatives | Disease Models, Animal | Glucosyltransferases - antagonists & inhibitors | beta-Galactosidase - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Gangliosidosis, GM1 - drug therapy | Mice, Knockout | Brain - drug effects | Animals | Feces - chemistry | Glycosphingolipids - antagonists & inhibitors | Glycosphingolipids - metabolism | Mice | beta-Galactosidase - genetics | Macrophage Activation - drug effects | Brain - immunology | Gangliosides | Analysis
Journal Article
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2003, Volume 213, Issue 1, pp. 55 - 60
Journal Article
Journal Article