GM1 Gangliosidosis—A Mini-Review [PDF]
Frontiers in Genetics, 2021 GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding the enzyme β-galactosidase. Absent or reduced β-galactosidase activity leads to the accumulation of β-linked galactose-containing ...
Elena‐Raluca Nicoli +2 more
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GM1 Gangliosidosis: Mechanisms and Management [PDF]
The Application of Clinical Genetics, 2021 Allisandra K Rha,1 Anne S Maguire,1,2 Douglas R Martin1,2 1Scott-Ritchey Research Center, Auburn University, Auburn, AL, 36849, USA; 2Department of Anatomy, Physiology, and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, 36849,
Anne S Maguire, Douglas R Martin
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Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis [PDF]
Journal of Lipid Research, 2023 GM1 gangliosidosis is a neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes lysosomal β-galactosidase. The enzyme deficiency blocks GM1 ganglioside catabolism, leading to accumulation of GM1 ganglioside and asialo-GM1 ...
Maria L. Allende +10 more
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A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisResearch in context [PDF]
EBioMedicine, 2023 Summary: Background: GM1 gangliosidosis is a rare, fatal, neurodegenerative disease caused by mutations in the GLB1 gene and deficiency in β-galactosidase.
Pamela Kell +16 more
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Therapeutic developments for neurodegenerative GM1 gangliosidosis [PDF]
Frontiers in NeuroscienceGM1 gangliosidosis (GM1) is a rare but fatal neurodegenerative disease caused by dysfunction or lack of production of lysosomal enzyme, β-galactosidase, leading to accumulation of substrates. The most promising treatments for GM1, include enzyme replacement therapy (ERT), substrate reduction therapy (SRT), stem cell therapy and gene editing.
Dorian Foster, Jessica Larsen
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Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients [PDF]
Molecular Genetics and Metabolism Reports, 2022 GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and late-onset presentations broadly ...
Richard W.D. Welford +10 more
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Preclinical Enzyme Replacement Therapy with a Recombinant β-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis [PDF]
Cells, 2022 GM1-gangliosidosis is a catastrophic, neurodegenerative lysosomal storage disease caused by a deficiency of lysosomal β-galactosidase (β-Gal). The primary substrate of the enzyme is GM1-ganglioside (GM1), a sialylated glycosphingolipid abundant in ...
Jason Andrew Weesner +12 more
doaj +2 more sources
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients [PDF]
Balkan Medical Journal, 2022 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 ...
Halil Tuna Akar +9 more
doaj +2 more sources
Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis [PDF]
Molecular Therapy: Methods & Clinical Development, 2022 GM1-gangliosidosis is a progressive neurodegenerative glycosphingolipidosis resulting from a GLB1 gene mutation causing a deficiency of the lysosomal enzyme β-galactosidase, which leads to the abnormal accumulation of GM1 ganglioside in the central ...
Toshiki Tsunogai +8 more
doaj +2 more sources
Late-infantile GM1 gangliosidosis: A case report. [PDF]
Medicine (Baltimore), 2022 Abstract Rationale: Monosialotetrahexosylganglioside (GM1) gangliosidosis is a rare lysosomal storage disorder caused by the deficiency of ß-galactosidase. Because clinical symptoms of GM1 gangliosidosis overlap with other neurodevelopmental disorders, the diagnosis of this disease is not easy, specifically in late ...
Noh ES +6 more
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