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Tay-Sachs disease

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2 Published in 2020 at "Journal of Neonatal Nursing"

DOI: 10.1016/j.jnn.2020.02.001

Abstract: 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… read more here.

Keywords: tay sachs; sachs disease; disease;

Testing Fate: Tay-Sachs Disease and the Right to Be Responsible by Shelley Z. Reuter (review)

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1 Published in 2018 at "Social Forces"

DOI: 10.1093/sf/sox084

Abstract: T he use of genetic testing to provide information about health risk and ancestry raises significant questions about choice, expert knowledge, and the reification of the social categories of race and disability. Using the case… read more here.

Keywords: construction; tay sachs; sachs disease; disease ... See more keywords

Tay-Sachs disease: a novel mutation from India

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1 Published in 2018 at "BMJ Case Reports"

DOI: 10.1136/bcr-2018-225916

Abstract: Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with… read more here.

Keywords: novel mutation; tay sachs; sachs disease; mutation india ... See more keywords

Late-onset Tay–Sachs disease

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1 Published in 2017 at "Practical Neurology"

DOI: 10.1136/practneurol-2017-001665

Abstract: 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… read more here.

Keywords: late onset; tay sachs; sachs disease; onset tay ... See more keywords

Autophagic flux is impaired in the brain tissue of Tay-Sachs disease mouse model

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3 Published in 2023 at "PLOS ONE"

DOI: 10.1371/journal.pone.0280650

Abstract: 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). Abnormal GM2 ganglioside accumulation causes progressive deterioration in the central… read more here.

Keywords: sachs disease; tay sachs; brain; model ... See more keywords