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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
Metabolic Brain Disease, ISSN 0885-7490, 12/2018, Volume 33, Issue 6, pp. 2051 - 2057
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2019, Volume 21, p. 100524
GM1 gangliosidosis is a rare autosomal recessive genetic disorder caused by the disruption of the gene that encodes β-galactosidase, a lysosomal hydrolase that... 
Glycoanalysis | Beta-galactosidase | Disease biomarkers | Glycan metabolites | GLB1 | GM1 gangliosidosis
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
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2008, Volume 94, Issue 4, pp. 391 - 396
Journal Article
MOLECULAR GENETICS AND METABOLISM, ISSN 1096-7192, 08/2008, Volume 94, Issue 4, pp. 391 - 396
Journal Article
Journal Article
MOLECULAR GENETICS AND METABOLISM, ISSN 1096-7192, 04/2014, Volume 111, Issue 4, pp. 513 - 521
G(M1)-gangliosidosis is a rare progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of lysosomal beta-galactosidase. We... 
MEDICINE, RESEARCH & EXPERIMENTAL | GLB1 gene | ACID | STORAGE DISEASES | beta-Galactosidase | BIOCHEMISTRY & MOLECULAR BIOLOGY | G(M1)-gangliosidosis | MODEL | QUANTITATIVE ESTIMATION | Neuronal storage | GM1 GANGLIOSIDOSIS | GM1-GANGLIOSIDOSIS | GENETICS & HEREDITY | American black bear | MICE | SANDHOFF | Y348H mutation
Journal Article
Human Mutation, ISSN 1059-7794, 07/2011, Volume 32, Issue 7, pp. 843 - 852
Journal Article
Biochemical Systematics and Ecology, ISSN 0305-1978, 08/2015, Volume 61, pp. 54 - 61
To explore the evolution of maize landraces from southwest China, we conducted a population genetic analysis of DNA sequence variation in globulin1 ( gene from... 
Maize landraces | Evolution | Southwest China | Glb1 gene | PHYLOGENIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | SIZE | DOMESTICATION | SSR DATA | EVOLUTIONARY BIOLOGY | MODELS | ZEA | MAYS L | ECOLOGY | DIVERSITY | WILD RELATIVES | Genetic research | Corn | Genes | Analysis
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2008, Volume 13, Issue 2, pp. 160 - 164
Abstract Background The glycosphingolipid storage disorder GM1-gangliosidosis is a severe neurodegenerative condition for which no therapy is currently... 
Pediatrics | Neurology | Galactose | Chemical chaperones | GM1-gangliosidosis | GLB1
Journal Article
Biopolymers and Cell, ISSN 0233-7657, 2016, Volume 32, Issue 6, pp. 450 - 460
GM1-gangliosidosis (MIM# 230500) and mucopolysaccharidosis IV (Morquio B, MIM# 230500) are autosomal-recessive diseases, which belong to the group of lysosomal... 
GM1-gangliosidosis | Morquio B disease | Gene GLB1 | Gangliosidosis | Missense mutation | Disease | Splicing | Keratan sulfate | Alleles | Lysosomes | Lysosomal storage diseases | Mucopolysaccharidosis | Mutation | gene GLB1
Journal Article