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Animal models of GM2 gangliosidosis: utility and limitations [PDF]
The Application of Clinical Genetics, 2016 Cheryl A Lawson,1,2 Douglas R Martin2,3 1Department of Pathobiology, 2Scott-Ritchey Research Center, 3Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA Abstract: GM2 gangliosidosis, a ...
Douglas R Martin
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Genetics and Therapies for GM2 Gangliosidosis [PDF]
Current Gene Therapy, 2018 Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic status and serves as a paradigm in the study of ...
Maria Begoña Cachón-González +1 more
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Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis [PDF]
Clinical and Translational ScienceGM1 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 ...
Sydney Stern +2 more
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Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report [PDF]
Frontiers in Pediatrics, 2023 BackgroundAB variant GM2 gangliosidosis is an extremely rare autosomal recessive lysosomal storage disease. Macular cherry-red spots are the most commonly described ocular sign in this disease.
Qin Chen, Fang Lu
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Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats [PDF]
Journal of Feline Medicine and Surgery Open Reports, 2022 Case series summary Two Japanese domestic cats with GM2 gangliosidosis variant 0, diagnosed at different times, are included in this case series. Both cats were diagnosed by genetic analysis and had the HEXB :c.667C>T pathogenic genetic variant, which ...
Yoshihiko Yu +7 more
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Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis [PDF]
Frontiers in Molecular Neuroscience, 2023 AB-Variant GM2 gangliosidosis (ABGM2) is a rare and lethal genetic disorder caused by mutations in the GM2A gene that lead to fatal accumulation of GM2 gangliosides (GM2) in neurons of the central nervous system (CNS).
Natalie M. Deschenes +8 more
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Therapeutic advantages of combined gene/cell therapy strategies in a murine model of GM2 gangliosidosis [PDF]
Molecular Therapy: Methods & Clinical Development, 2022 Genetic deficiency of β-N-acetylhexosaminidase (Hex) functionality leads to accumulation of GM2 ganglioside in Tay-Sachs disease and Sandhoff disease (SD), which presently lack approved therapies.
Davide Sala +10 more
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GM2 Gangliosidosis AB Variant: A Hidden Truth. [PDF]
CureusGM2 gangliosidosis AB variant (GM2AB) is a rare neurodegenerative lysosomal storage disorder with clinical features resembling Tay-Sachs disease but characterized by normal lysosomal β-hexosaminidase A enzyme activity. To date, only 14 cases of the acute infantile form have been reported. To the best of our knowledge, this is the first case of GM2AB in
Noites I +9 more
europepmc +3 more sources
Neurobiology of Disease, 2020 The favorable outcome of in vivo and ex vivo gene therapy approaches in several Lysosomal Storage Diseases suggests that these treatment strategies might equally benefit GM2 gangliosidosis.
Davide Sala +2 more
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Biochemical characterization of the GM2 gangliosidosis B1 variant [PDF]
Brazilian Journal of Medical and Biological Research, 2004 The deficiency of the A isoenzyme of ß-hexosaminidase (Hex) produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease) has two variants with enzymological differences: the B variant consists of the absence of Hex A ...
J.C. Tutor
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