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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Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort. [PDF]
Mol Genet Genomic Med, 2019 Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative disorder. Hex A enzyme analysis demonstrates near‐zero activity in patients affected with TSD
Cecchi AC +10 more
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Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco [PDF]
Klinische Pädiatrie, 2021 Background: Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder characterized by progressive destruction of nerve cells in the brain and spinal cord.
Bibi, F +9 more
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Patient-Derived Phenotypic High-Throughput Assay to Identify Small Molecules Restoring Lysosomal Function in Tay-Sachs Disease. [PDF]
SLAS Discov, 2019 Tay–Sachs disease is an inherited lysosomal storage disease resulting from mutations in the lysosomal enzyme, β-hexosaminidase A, and leads to excessive accumulation of GM2 ganglioside.
Colussi DJ, Jacobson MA.
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Definitions, 2013 In 1881 British ophthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a oneyear-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system [4] as manifested
Mohammad Taghi Niknejad +2 more
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Unusual case of Juvenile Tay-Sachs disease. [PDF]
BMJ Case Rep, 2019 Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition of precursors in different organs.
Cheema HA, Waheed N, Saeed A.
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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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Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. [PDF]
Mol Biol Cell, 2016 In Tay–Sachs disease, mutations in HEXA can lead to aberrant α subunits of the HexA enzyme. Two such mutants have folding defects and are cleared by endoplasmic reticulum-associated degradation.
Dersh D, Iwamoto Y, Argon Y.
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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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