Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1371
Abstract: In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature… read more here.
Keywords: patients gm1; gangliosidosis; reduction therapy; substrate reduction ... See more keywords
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100495
Abstract: Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides. Phenotypes of gangliosidoses range from infantile, late-infantile, juvenile, and to the adult form. The… read more here.
Keywords: phenotype; genotype phenotype; phenotype correlation; disease ... See more keywords
Characterization of glycan substrates accumulating in GM1 Gangliosidosis
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100524
Abstract: Introduction GM1 gangliosidosis is a rare autosomal recessive genetic disorder caused by the disruption of the GLB1 gene that encodes β-galactosidase, a lysosomal hydrolase that removes β-linked galactose from the non-reducing end of glycans. Deficiency… read more here.
Keywords: glycan metabolites; glb1; gangliosidosis; gm1 gangliosidosis ... See more keywords
Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis
Sign Up to like & getrecommendations! Published in 2025 at "Clinical and Translational Science"
DOI: 10.1111/cts.70176
Abstract: GM1 and GM2 gangliosidosis are inherited, progressive, neurodegenerative lysosomal disorders of variable onset and disease progression. GM1 gangliosidosis is a result of biallelic pathogenic variants in the GLB1 gene, which confer absent or reduced β‐galactosidase… read more here.
Keywords: treatment; gm1 gm2; gangliosidosis; gm2 gangliosidosis ... See more keywords
GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography
Sign Up to like & getrecommendations! Published in 2024 at "Iranian Journal of Child Neurology"
DOI: 10.22037/ijcn.v18i2.40751
Abstract: Abstract Gangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits. Regarding phenotype, GM1 and GM2-Gangliosidosis are divided into… read more here.
Keywords: onset disease; gm2 gangliosidosis; gangliosidosis; gm1 gm2 ... See more keywords
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C
Sign Up to like & getrecommendations! Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10081962
Abstract: Background: Early diagnosis is essential in the field of lysosomal storage disorders for the proper management of patients and for starting therapies before irreversible damage occurs, particularly in neurodegenerative conditions. Currently, specific biomarkers for the… read more here.
Keywords: flow cytometric; pick type; gangliosidosis; niemann pick ... See more keywords
Ursodeoxycholic Acid Binds PERK and Ameliorates Neurite Atrophy in a Cellular Model of GM2 Gangliosidosis
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24087209
Abstract: The Unfolded protein response (UPR), triggered by stress in the endoplasmic reticulum (ER), is a key driver of neurodegenerative diseases. GM2 gangliosidosis, which includes Tay-Sachs and Sandhoff disease, is caused by an accumulation of GM2,… read more here.
Keywords: gm2 gangliosidosis; cellular model; gangliosidosis; ursodeoxycholic acid ... See more keywords
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients
Sign Up to like & getrecommendations! Published in 2022 at "Balkan Medical Journal"
DOI: 10.4274/balkanmedj.galenos.2022.2022-3-75
Abstract: Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face are the major clinical… read more here.
Keywords: gangliosidosis; diagnosis; clinical laboratory; gm1 gangliosidosis ... See more keywords