Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction. [PDF]
PLoS BiologyGlycosphingolipids (GSL) are important bioactive membrane components. GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe early-onset neurodegeneration. The ganglioside
Alex S Nicholson +11 more
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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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A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) [PDF]
Orphanet Journal of Rare DiseasesBackground The GM1 and GM2 gangliosidoses and type 2 Gaucher disease (GD2) are inherited lysosomal storage disorders with most cases having symptom onset in infancy and reduced life expectancy.
Bénédicte Héron +9 more
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The diagnostic journey for patients with late-onset GM2 Gangliosidoses [PDF]
Molecular Genetics and Metabolism Reports, 2023 Late-onset forms of GM2 gangliosidosis―mainly, Tay-Sachs disease and Sandhoff disease―are under-recognized in clinical practice. In these rare lysosomal storage disorders, deficiency of β-hexosaminidase A results in excessive accumulation of GM2 ...
Mariah C. Lopshire +5 more
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Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study [PDF]
Orphanet Journal of Rare DiseasesBackground GM1 and GM2 (Tay–Sachs and Sandhoff diseases) gangliosidoses are rare, autosomal recessive, potentially life-threatening, disabling disorders characterized by progressive neurodegeneration, with no disease-modifying treatment. This qualitative
Maria Belen Rodriguez +8 more
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The spectrum of inherited gray matter Degenerative Brain Disorders (DBD) in children: A single-center study [PDF]
Annals of Indian Academy of Neurology, 2023 Objectives: To study the clinical spectrum of inherited gray matter degenerative brain disorders (DBD) in children. Methods: This cross-sectional study evaluated children up to 12 y of age, diagnosed with an inherited gray matter DBD in a tertiary care ...
Ram Prabhu +8 more
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Chitotriosidase as a biomarker for gangliosidoses
Molecular Genetics and Metabolism Reports, 2021 Elevated serum chitotriosidase (CHITO) is an indication of macrophage activation, and its capacity have been explored as a marker of inflammation in a number of disease states.
Sarah Kim +2 more
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Pediatric Neurology Briefs, 2006 Clinical features and genetic correlations of 21 new case histories and 134 published case reports of juvenile or subacute GM2 gangliosidosis were analyzed to delineate the natural history of the disorder, in a study at the Hospital for Sick Children ...
J Gordon Millichap
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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 +4 more
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Evidence of Lysosomal β-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease [PDF]
Journal of Functional BiomaterialsExtracellular vesicles (EVs) can be isolated from biological fluids and cell culture medium. Their nanometric dimension, relative stability, and biocompatibility have raised considerable interest for their therapeutic use as delivery vehicles of ...
Eleonora Calzoni +9 more
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