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Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2008, Volume 94, Issue 4, pp. 391 - 396
Journal Article
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
BBA - Molecular Basis of Disease, ISSN 0925-4439, 2011, Volume 1812, Issue 7, pp. 782 - 790
Journal Article
Brain, ISSN 0006-8950, 04/2003, Volume 126, Issue 4, pp. 974 - 987
Journal Article
Cellular and Molecular Life Sciences, ISSN 1420-682X, 6/2014, Volume 71, Issue 11, pp. 2017 - 2032
The ubiquitous distribution of lysosomes and their heterogeneous protein composition reflects the versatility of these organelles in maintaining cell... 
Life Sciences | Biochemistry, general | Protective protein/cathepsin A (PPCA) | Sialic acid | Elastin-binding protein (EBP) | Life Sciences, general | Neuraminidase 1 (NEU1) | Lysosomal exocytosis | β-Galactosidase (β-GAL) | Biomedicine general | Cell Biology | CATHEPSIN-A | CHAPERONE-MEDIATED AUTOPHAGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PLASMA-MEMBRANE | CELL BIOLOGY | beta-Galactosidase (beta-GAL) | HUMAN PROTECTIVE PROTEIN | ACID BETA-GALACTOSIDASE | GM1 GANGLIOSIDOSIS | MOUSE MODEL | ENDOPLASMIC-RETICULUM | ENZYME REPLACEMENT THERAPY | MEMBRANE-ASSOCIATED SIALIDASE | Lysosomal Storage Diseases - enzymology | Humans | Lysosomes - genetics | Lysosomes - enzymology | Multienzyme Complexes - metabolism | Neuraminidase - genetics | Gangliosidosis, GM1 - genetics | Cathepsin A - genetics | beta-Galactosidase - metabolism | Cathepsin A - metabolism | Lysosomes - pathology | Gangliosidosis, GM1 - enzymology | Disease Models, Animal | Mucolipidoses - enzymology | Signal Transduction | Gene Expression Regulation | Lysosomal Storage Diseases - genetics | Neuraminidase - metabolism | Gangliosidosis, GM1 - pathology | Mucolipidoses - genetics | Multienzyme Complexes - genetics | Lysosomal Storage Diseases - pathology | Mice, Knockout | Mucolipidoses - pathology | Animals | Mice | beta-Galactosidase - genetics | Enzymes | Hydrolases | Gangliosides | Elastin | Organic acids | Protein binding | Cellular biology | Metabolic disorders | Protective Protein | lysosomal exocytosis | Cathepsin A (PPCA) | sialic acid | elastin binding protein (EBP)
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2016, Volume 170, Issue 3, pp. 634 - 644
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2/2008, Volume 17, Issue 4, pp. 469 - 477
It is estimated that more than 40 different lysosomal storage disorders (LSDs) cumulatively affect one in 5000 live births, and in the majority of the LSDs,... 
ACTIVATION | UNFOLDED PROTEIN RESPONSE | NEURONAL CEROID-LIPOFUSCINOSES | THIOESTERASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | LEADS | ENDOPLASMIC-RETICULUM STRESS | INCL | BRAIN | Gangliosidosis, GM1 - metabolism | Superoxide Dismutase - genetics | Apoptosis - drug effects | Humans | Endoplasmic Reticulum - metabolism | RNA, Messenger - metabolism | Lysosomal Storage Diseases, Nervous System - pathology | Neuronal Ceroid-Lipofuscinoses - pathology | Calnexin - genetics | Mitochondrial Proton-Translocating ATPases - genetics | Taurochenodeoxycholic Acid - pharmacology | Heat-Shock Proteins - genetics | Gangliosidosis, GM1 - genetics | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Lysosomal Storage Diseases - drug therapy | Endoplasmic Reticulum - drug effects | Glutaredoxins - genetics | Nuclear Proteins - genetics | Methylamines - pharmacology | Lysosomal Storage Diseases, Nervous System - drug therapy | Neuronal Ceroid-Lipofuscinoses - drug therapy | Catalase - genetics | RNA, Messenger - genetics | Cells, Cultured | Molecular Chaperones - genetics | Oxidative Stress - genetics | Lysosomal Storage Diseases - genetics | Neuronal Ceroid-Lipofuscinoses - metabolism | Gangliosidosis, GM1 - pathology | Lysosomal Storage Diseases, Nervous System - metabolism | Genetic Markers | DNA-Binding Proteins - genetics | Lysosomal Storage Diseases, Nervous System - genetics | Regulatory Factor X Transcription Factors | Lysosomal Storage Diseases - pathology | Protein Folding | Lysosomal Storage Diseases - metabolism | Transcription Factors | Apoptosis - physiology
Journal Article
Journal Article
American Journal of Neuroradiology, ISSN 0195-6108, 08/2009, Volume 30, Issue 7, pp. 1325 - 1327
Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal... 
NEUROIMAGING | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | CLINICAL NEUROLOGY | BRAIN IRON | Young Adult | Magnetic Resonance Imaging | Humans | Brain - pathology | Female | Gangliosidosis, GM1 - pathology | Male | Child
Journal Article
Journal Article
Journal Article
Indian pediatrics, 02/2015, Volume 52, Issue 2, p. 155
GM1 gangliosidosis is a disorder due to GLB1 gene mutation. A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on... 
Magnetic Resonance Imaging | Humans | Child, Preschool | Gangliosidosis, GM1 - pathology | Male | White Matter - pathology
Journal Article