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Updated: Jun 17, 2026

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对亨廷顿病的多原子分析揭示了一种补偿性天体细胞状态

Fahad Paryani1, Ji-Sun Kwon2, Christopher W Ng3

  • 1Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.

Nature communications
|August 7, 2024
PubMed
概括

星球细胞在亨廷顿病 (HD) 中保护神经元. 通过基因和脂质分析识别的特定的天体细胞状态被发现可以保护脊状投射神经元免受神经退行,从而提供新的治疗点.

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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...