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
Maria Begoña Cachon-Gonzalez +2 more
exaly +33 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 ...
Cynthia Tifft
exaly +6 more sources
Thymic alterations in GM2 gangliosidoses model mice. [PDF]
PLoS ONE, 2010 BACKGROUND: Sandhoff disease is a lysosomal storage disorder characterized by the absence of β-hexosaminidase and storage of GM2 ganglioside and related glycolipids.
Seiichi Kanzaki +12 more
doaj +6 more sources
Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses [PDF]
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 +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
Ruth Pulikottil-Jacob
exaly +3 more sources
A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia [PDF]
Trials, 2021 Background The lack of approved treatments for the majority of rare diseases is reflective of the unique challenges of orphan drug development. Novel methodologies, including new functionally relevant endpoints, are needed to render the development ...
T. Fields +22 more
doaj +4 more sources
Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses. [PDF]
PLoS ONE, 2020 β-hexosaminidase is an enzyme responsible for the degradation of gangliosides, glycans, and other glycoconjugates containing β-linked hexosamines that enter the lysosome. GM2 gangliosidoses, such as Tay-Sachs and Sandhoff, are lysosomal storage disorders
Catlyn Cavender +8 more
doaj +3 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 +4 more
doaj +3 more sources
Increased phosphorylation of HexM improves lysosomal uptake and potential for managing GM2 gangliosidoses [PDF]
BBA Advances, 2022 Tay-Sachs and Sandhoff diseases are genetic disorders resulting from mutations in HEXA or HEXB, which code for the α- and β-subunits of the heterodimer β-hexosaminidase A (HexA), respectively.
Graeme Benzie +12 more
doaj +2 more sources
Functionality of a bicistronic construction containing HEXA and HEXB genes encoding β-hexosaminidase A for cell-mediated therapy of GM2 gangliosidoses [PDF]
Neural Regeneration Research, 2022 Tay-Sachs disease and Sandhoff disease are severe hereditary neurodegenerative disorders caused by a deficiency of β-hexosaminidase A (HexA) enzyme, which results in the accumulation of GM2 gangliosides in the nervous system cells.
Alisa A Shaimardanova +4 more
doaj +2 more sources