Revista de la Facultad de Medicina, 2019 Introduction: Lysosomal storage disease is caused by the deficiency of a single hydrolase (lysosomal enzymes). GM2 gangliosidoses are autosomal recessive disorders caused by deficiency of β-hexosaminidase and Tay-Sachs disease (TSD) is one of its three ...
Carlos Andrés Gualdrón-Frías +1 more
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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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Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay–Sachs Disease [PDF]
Neurology InternationalTay–Sachs disease (TSD) is a rare and severe neurodegenerative disorder inherited in an autosomal recessive manner. It is caused by a deficiency of the enzyme hexosaminidase A, which is responsible for the degradation of GM2 gangliosides—lipids that ...
María González-Sánchez +2 more
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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
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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
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Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease [PDF]
Human Genome VariationGenetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay‒Sachs disease. The patient gradually became unable to consume food orally.
Masaharu Moroto +9 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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Tay-Sachs Disease is a rare genetic disorder that causes progressive damage to the nervous system, primarily affecting infants and young children. This article begins by explaining the genetic cause of the disease, which involves mutations in the HEXA gene leading to the absence of beta-hexosaminidase A, an enzyme essential for breaking down fatty ...
Lui F, Ramani PK, Parayil Sankaran B.
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BMJ, 1965 The coming-of-age biochemical neuropathology and neurology has been heralded and accompanied by a shower of publications, including symposia, seminars, and Festschrifte. Not the least of these is this admirable, well-published, and beautifully illustrated volume by the present day proprietors of the most intensely studied hereditary neurovisceral ...
K, Kalra, K C, Singhal, O P, Bansal
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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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