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Updated: May 3, 2026

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携带体质SLC35A2变体的MOGHE携带的人类大脑组织揭示了异常蛋白质表达和白质中的蛋白质损失

Erica Cecchini1, Simon Geffers1, Roland Coras1

  • 1Department of Neuropathology, Partner of the European Reference Network (ERN) EpiCARE, Universitätsklinikum Erlangen, Friedrich-Alexander Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.

Acta neuropathologica
|March 5, 2025
PubMed
概括

脊髓发育轻度形与中的质质增生 (MOGHE) 涉及儿童的耐药性. SLC35A2基因变异会影响蛋白质水平,并导致低髓化,这表明它在MOGHE病变发生过程中发挥了作用.

关键词:
脑子 脑子 大脑 脑子是一种病.莫吉 (MOGHE) 是一个古老的城市.骨髓蛋白是什么意思 骨髓蛋白是什么意思神经病理学神经病理学氧基基细胞 (Oligodendrocytes) 是一种类型的细胞.

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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...
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