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
exaly +7 more sources
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
exaly +3 more sources
Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis [PDF]
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
exaly +5 more sources
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
doaj +3 more sources
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
doaj +2 more sources
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
doaj +2 more sources
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation [PDF]
Cells, 2021 Aims: Tay–Sachs and Sandhoff diseases (GM2 gangliosidosis) are autosomal recessive disorders of lysosomal function that cause progressive neurodegeneration in infants and young children. Impaired hydrolysis catalysed by β-hexosaminidase A (HexA) leads to
Beatriz Castejón-Vega +11 more
doaj +11 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds [PDF]
MoleculesGangliosides are essential for membrane functions, cell recognition, and maintenance of the nervous system. GM2 gangliosidosis is a group of rare genetic lysosomal storage diseases that includes Tay-Sachs disease (TSD), Sandhoff disease (SD), and AB ...
Iram Abidi +5 more
doaj +2 more sources