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- W4312685719 abstract "Huntington's Disease (HD) is a rare autosomal dominant neurodegenerative disorder. Typical symptoms of HD include personality changes, depression, and chorea. It is cause by elongated CAG repeats in the Huntingtin gene, or HTT gene. The when there are more than 40 repeats of CAG in the mutated HTT gene (mhtt), HD will be expressed in adulthood. And the early onset (teenage) of HD usually occurs when more than 60 repeats exist. Expressing mhtt gene will cause death of medium spiny neurons (MSN) and results in movement disorders or chorea in HD patients. Noticeably, 95% of the neuron population is made of MSN, which is vulnerable to glutamatergic toxicity (excitotoxicity) and studies suggests that excitotoxicity neuron death is associated with neurodegeneration in HD. There is currently no cure to HD, but several gene therapies, including Antisense oligonucleotides (ASOs) and RNAi therapy with Adeno-associated viral (AAV) can effectively delay or control the disease progression. This paper briefly introduces HD's pathogenesis and two gene therapies to treat it, and hope to provide clear clues for future studies that focuses on gene therapies of HD." @default.
- W4312685719 created "2023-01-05" @default.
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- W4312685719 date "2022-01-01" @default.
- W4312685719 modified "2023-10-15" @default.
- W4312685719 title "Huntington's Disease: Mechanisms of pathogenesis and therapies" @default.
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- W4312685719 doi "https://doi.org/10.1063/5.0113459" @default.
- W4312685719 hasPublicationYear "2022" @default.
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