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CHEMICAL COMMUNICATIONS, ISSN 1359-7345, 2016, Volume 52, Issue 32, pp. 5497 - 5515
Lysosomal storage disorders (LSDs) are often caused by mutations that destabilize native folding and impair the trafficking of enzymes, leading to premature... 
IMINOSUGAR C-GLYCOSIDES | GM GANGLIOSIDOSIS | SUBSTRATE REDUCTION | CHEMICAL CHAPERONE | HUMAN ALPHA-GALACTOSIDASE | BIOLOGICAL EVALUATION | ACID-BETA-GLUCOSIDASE | GLUCOCEREBROSIDASE INHIBITORS | MOLECULAR-BASIS | CHEMISTRY, MULTIDISCIPLINARY | NEURODEGENERATIVE DISEASES
Journal Article
MOLECULAR GENETICS AND METABOLISM, ISSN 1096-7192, 08/2008, Volume 94, Issue 4, pp. 391 - 396
Journal Article
Brain and Development, ISSN 0387-7604, 05/2018, Volume 40, Issue 5, pp. 383 - 390
GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. Because of its extreme rarity and symptoms that overlap with other... 
GLB1 | GM1 gangliosidosis | Whole-exome sequencing | Aspartate transaminase | Wholc-exome sequencing | POPULATION | GLB1 MUTATIONS | IMAGING FINDINGS | MORQUIO B DISEASE | GLOBUS-PALLIDUS | CLINICAL NEUROLOGY | GM GANGLIOSIDOSIS | GENE | G(M1) GANGLIOSIDOSIS | GM1-GANGLIOSIDOSIS | RAPID DETECTION | Enzymes | Nervous system diseases | Diagnosis | Gangliosides | Epilepsy | Genomics
Journal Article
Journal Article
BIOORGANIC & MEDICINAL CHEMISTRY LETTERS, ISSN 0960-894X, 08/2017, Volume 27, Issue 15, pp. 3431 - 3435
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2016, Volume 170, Issue 3, pp. 634 - 644
Journal Article
MEDCHEMCOMM, ISSN 2040-2503, 2015, Volume 6, Issue 2, pp. 306 - 310
The development of second-generation valienamine-type chemical chaperones for G(M1)-gangliosidosis is described. Several N-substituted (+)-conduramine F-4... 
GM GANGLIOSIDOSIS | OCTYL-BETA-VALIENAMINE | CHEMISTRY, MEDICINAL | THERAPY | ALPHA-GLUCOSIDASE INHIBITORS | PHARMACOLOGICAL CHAPERONES | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOLOGICAL EVALUATION | ENZYME DEFICIENCIES | CONDURAMINE F-1 | MUTANT ENZYME | GALACTOSIDASE
Journal Article
VETERINARY PATHOLOGY, ISSN 0300-9858, 05/2015, Volume 52, Issue 3, pp. 543 - 552
Clinical, gross, histopathologic, electron microscopic findings and enzymatic analysis of 4 captive, juvenile springboks (Antidorcas marsupialis) showing both... 
springbok | storage disease | LYSOSOMAL STORAGE DISEASE | hexosaminidase | autosomal-recessive | PATHOLOGY | Antidorcas marsupialis | neurons | G(M2) GANGLIOSIDOSIS | SANDHOFF DISEASE | RENAL CYSTIC-DISEASE | FELINE MODEL | GM gangliosidosis | polycystic kidney disease | HEXB GENE | BETA-GALACTOSIDASE | VETERINARY SCIENCES | AUTOSOMAL-DOMINANT | TAY-SACHS-DISEASE | ALASKAN HUSKIES
Journal Article
NEUROPATHOLOGY, ISSN 0919-6544, 06/2014, Volume 34, Issue 3, pp. 304 - 308
Adult-onset GM(2) gangliosidosis is very rare and only three autopsy cases have been reported up to now. We report herein an autopsy case of adult-onset GM(2)... 
CELLS | motor neuron disease | adult onset | GM2 GANGLIOSIDOSIS | PHENOTYPE | PATHOLOGY | ultrastructure | HEXOSAMINIDASE | VARIANT | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | SANDHOFF DISEASE | GENE | GM gangliosidosis | NEUROPATHOLOGY | autopsy | TAY-SACHS-DISEASE
Journal Article
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY, ISSN 0223-5234, 01/2017, Volume 126, pp. 160 - 170
This report is about the identification, synthesis and initial biological characterization of derivatives of 4-epi-isofagomine as pharmacological chaperones... 
Galactosidase inhibitors | CHEMISTRY, MEDICINAL | Iminosugars | STORAGE DISORDERS | FABRY DISEASE | GM GANGLIOSIDOSIS | GLB1 GENE | THERAPY | ENZYME | Pharmacological chaperones | G(M1)-GANGLIOSIDOSIS | GM1 GANGLIOSIDOSIS | Morquio disease type B | 1-DEOXYGALACTONOJIRIMYCIN | GM1-gangliosidosis | PHARMACOLOGICAL CHAPERONE
Journal Article
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, ISSN 1090-3798, 09/2006, Volume 10, Issue 5-6, pp. 245 - 248
GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase. Three clinical forms... 
MRI | PROTON MR SPECTROSCOPY | G(M1) GANGLIOSIDOSIS | PEDIATRICS | GM1 gangliosidosis | CLINICAL NEUROLOGY | MRS | child | GM-GANGLIOSIDOSIS | CHILDREN
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 94, Issue 4, pp. 391 - 396
GM gangliosidosis is a lysosomal storage disorder due to deficiency of the β-galactosidase enzyme. This deficiency results in accumulation of GM gangliosides... 
β-galactosidase | Lysosomal storage disorders | GLB1 | GM 1 gangliosidosis
Journal Article
ACTA PAEDIATRICA, ISSN 0803-5253, 12/2005, Volume 94, Issue 12, pp. 1847 - 1849
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 2009, Volume 1792, Issue 10, pp. 982 - 987
Journal Article
Acta Paediatrica, ISSN 0803-5253, 12/2005, Volume 94, Issue 12, pp. 1847 - 1849
GM 1 gangliosidosis is a rare disorder characterized by deficiency of the ß-galactosidase enzyme, with the resulting accumulation of glycolipids,... 
lysosomal storage disease | GM 1 gangliosidosis | Fetal hydrops
Journal Article
MOLECULAR AND CELLULAR PROBES, ISSN 0890-8508, 08/2008, Volume 22, Issue 4, pp. 252 - 254
The G(M1)-gangliosidosis is an autosomal recessive lysosomal storage disease caused by structural defects of the beta-galactosidase gene (GLB1) which lead to a... 
Microsatellite | BETA-GALACTOSIDASE GENE | GANGLIOSIDOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | Parentage testing | G(M1)-gangliosidosis | GM-GANGLIOSIDOSIS | CELL BIOLOGY | POLYMORPHISMS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DINUCLEOTIDE-REPEAT | GM1-GANGLIOSIDOSIS | MUTATION | Diagnosis | DOG | ALASKAN HUSKIES
Journal Article
Journal Article
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