New Approaches to Tay-Sachs Disease Therapy [PDF]
Frontiers in Physiology, 2018 Tay-Sachs disease belongs to the group of autosomal-recessive lysosomal storage metabolic disorders. This disease is caused by β-hexosaminidase A (HexA) enzyme deficiency due to various mutations in α-subunit gene of this enzyme, resulting in GM2 ...
Valeriya V. Solovyeva +5 more
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Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]
Orphanet Journal of Rare Diseases, 2018 Background Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase.
Mylinh Vu +17 more
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Autophagic flux is impaired in the brain tissue of Tay-Sachs disease mouse model. [PDF]
PLoS ONE, 2023 Tay-Sachs disease is a lethal lysosomal storage disorder caused by mutations in the HexA gene encoding the α subunit of the lysosomal β-hexosaminidase enzyme (HEXA).
Tugce Sengul +3 more
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Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor α [PDF]
Cells, 2023 Tay-Sachs disease (TSD) is a progressive heritable neurodegenerative disorder characterized by the deficiency of the lysosomal β-hexosaminidase enzyme (Hex−/−) and the storage of GM2 ganglioside, as well as other related glycoconjugates. Along with motor
Sumita Raha +3 more
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Therapeutic Strategies For Tay-Sachs Disease [PDF]
Frontiers in Pharmacology, 2022 Tay-Sachs disease (TSD) is an autosomal recessive disease that features progressive neurodegenerative presentations. It affects one in 100,000 live births. Currently, there is no approved therapy or cure.
Jaqueline A. Picache +2 more
doaj +3 more sources
sp2-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease [PDF]
Journal of Enzyme Inhibition and Medicinal Chemistry, 2022 The late-onset form of Tay-Sachs disease displays when the activity levels of human β-hexosaminidase A (HexA) fall below 10% of normal, due to mutations that destabilise the native folded form of the enzyme and impair its trafficking to the lysosome ...
Manuel González-Cuesta +8 more
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Late-onset Tay–Sachs disease [PDF]
Practical Neurology, 2017 We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms.
Andrew W Barritt +3 more
core +5 more sources
GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease [PDF]
Journal of Neuroinflammation, 2020 Background Tay-Sachs disease (TSD), a type of GM2-gangliosidosis, is a progressive neurodegenerative lysosomal storage disorder caused by mutations in the α subunit of the lysosomal β-hexosaminidase enzyme.
Seçil Akyıldız Demir +4 more
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Analysis of Brain Lipids in the Early-Onset Tay–Sachs Disease Mouse Model With the Combined Deficiency of β-Hexosaminidase A and Neuraminidase 3 [PDF]
Frontiers in Molecular Biosciences, 2022 Introduction: Tay–Sachs disease is an autosomal recessively inherited lysosomal storage disease that results from loss-of-function mutations in the HEXA gene coding β-hexosaminidase A.
Melike Can +6 more
doaj +3 more sources
Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Tay–Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme.
Ji Hong Park +7 more
doaj +3 more sources