Results 1 to 10 of about 1,188 (166)
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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Cells, 2020 (1) Lysosomal storage diseases are rare inherited disorders with no standardized or commercially available tests for biochemical diagnosis. We present factors influencing the quality of enzyme assays for metachromatic leukodystrophy (MLD) and ...
Judith Bohringer +2 more
exaly +4 more sources
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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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
doaj +3 more sources
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
doaj +2 more sources
Clinical Case Reports (discontinued), 2020 Sandhoff disease is one of the GM2‐gangliosidoses which is caused by a mutation in the HEXB preventing the breakdown of GM2‐ganglioside. We report a novel HEXB variant in a family with a history of a dead girl with Sandhoff disease which was not found in
Modjtaba Emadi-Baygi +2 more
exaly +2 more sources
The juvenile gangliosidoses: A timeline of clinical change
Molecular Genetics and Metabolism Reports, 2020 Background: The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood ...
Kelly E. King +3 more
doaj +3 more sources
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
doaj +4 more sources
AAV-based gene therapy with modified HEXB confers lasting therapeutic benefits in GM2 gangliosidosis models [PDF]
Cell Reports MedicineSummary: GM2 gangliosidoses, including Tay-Sachs (TSD) and Sandhoff (SD) diseases, are lysosomal storage disorders with neurological manifestations caused by the excessive accumulation of GM2 ganglioside due to the deficiency of the β-hexosaminidase A ...
Keisuke Kitakaze +11 more
doaj +2 more sources
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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