Results 21 to 30 of about 4,924,951 (177)
Tay-Sachs disease: current perspectives from Australia
The Application of Clinical Genetics, 2015 Raelia M Lew,1,7 Leslie Burnett,2,3,4 Anné L Proos,2 Martin B Delatycki5,6 1Department of Obstetrics and Gynecology, QEII Research Institute for Mothers and Infants, The University of Sydney, Australia; 2NSW Health Pathology North, Royal ...
Lew RM +3 more
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Treating late-onset Tay Sachs disease: Brain delivery with a dual trojan horse protein [PDF]
Molecular Therapy: Methods & Clinical DevelopmentTay-Sachs (TS) disease is a neurodegenerative disease resulting from mutations in the gene encoding the α-subunit (HEXA) of lysosomal β-hexosaminidase A (HexA).
Esther Osher +17 more
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Neurodegeneration with progressive dystonia: Juvenile-onset Tay–Sachs disease [PDF]
Annals of Indian Academy of Neurology, 2022 Jasmine Kaur +4 more
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BMJ, 1965 This book is well worth noting, because Tay-Sachs disease is common enough to be very distressing. As we all know, it is a hereditary disease which attacks mainly Jewish people. It is an "inborn error of metabolism." Soon after birth the poor child begins to fail in mental and physical health, and before long he begins to lose his sight. In nine out of
K, Kalra, K C, Singhal, O P, Bansal
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Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype. [PDF]
J Peripher Nerv SystABSTRACT Background Late‐onset Tay–Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantile form by presenting with milder and heterogeneous neurological manifestations, including lower motor neuron phenotypes.
Frezatti RSS +11 more
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, 2022 This work explores three different concepts. First, docking studies are performed with various mutant HexA structures and Arimoclomol (an HSP inducer), with statistical analysis to establish any correlation between noted binding affinity and either ...
Aditya Shrinivasan
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Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss. [PDF]
PLoS Genetics, 2010 Tay-Sachs disease is a severe lysosomal disorder caused by mutations in the HexA gene coding for the α-subunit of lysosomal β-hexosaminidase A, which converts G(M2) to G(M3) ganglioside. Hexa(-/-) mice, depleted of β-hexosaminidase A, remain asymptomatic
Volkan Seyrantepe +15 more
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Scholars Academic Journal of Pharmacy, 2021 Tay-Sachs disease is a rare hereditary disease that increasingly destroys nerve cells (neurons) in the brain and nerve structure. The foremost common variety of monogenic disorder becomes apparent in infancy. Babies with this disease usually look traditional till the age of three to six months, once their development slows and muscles used for movement
Gollapalli Eswari +4 more
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Combined treatment of Ketogenic diet and propagermanium reduces neuroinflammation in Tay-Sachs disease mouse model. [PDF]
Metab Brain DisTay-Sachs disease is a rare lysosomal storage disorder caused by beta-Hexosaminidase A enzyme deficiency causing abnormal GM2 ganglioside accumulation in the central nervous system.
Inci OK, Seyrantepe V.
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Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses.
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
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