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Updated: Aug 16, 2026

Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy
11:22

Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy

Published on: June 27, 2018

ハンチントン病の症状前検査

S J Bird

    JAMA
    |June 14, 1985
    PubMed
    まとめ

    ハンチントン病 (HD) のDNAマーカーが利用可能になり,症状前の検査が可能になりました. 責任ある開発には,倫理的な問題を慎重に検討し,危険にさらされている個人に対する強力なサポートシステムが必要です.

    キーワード:
    遺伝学と生殖について

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    Huntington Disease l: Introduction01:21

    Huntington Disease l: Introduction

    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,...