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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Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease. [PDF]
PLoS ONE, 2011 To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified ...
Takashi Kodama +11 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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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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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 ...
Andrew W Barritt +18 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
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Tay-Sachs disease in a child of indigenous Guatemalan-Mayan origin with macular brown spots and perifoveal whitening [PDF]
American Journal of Ophthalmology Case ReportsPurpose: This report describes an unusual macular presentation of Tay-Sachs disease in a two-year-old female of Guatemalan-Mayan origin. This case serves to build upon the very limited literature regarding ophthalmic manifestations of Tay-Sachs disease ...
Mya Abousy +3 more
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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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Journal of Neonatal Nursing, 2020 Abstract Tay-Sachs disease (TSD) is a neurodegenerative disease that is caused by mutations in the HEXA gene. These mutation cause low or absent activity of the enzyme beta-hexosaminidase A which leads to GM2 build up in brain and spinal cells causing muscle weakness, regression of milestones, and difficulty with mobility.
exaly +5 more sources