関連する実験動画

Updated: Jun 1, 2025

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

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ハンチントン病の神経変異を誘発する長い体内DNAの繰り返し拡大

Robert E Handsaker1, Seva Kashin1, Nora M Reed1

  • 1Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

Cell
|January 17, 2025
PubMed
まとめ

ハンチントン病 (HD) は,ニューロン内のハンティングチン (HTT) 遺伝子のCAGの繰り返し拡張を伴う. 私たちの研究は この膨張が ニューロンのアイデンティティを 変えて 細胞死経路を誘発することで 神経変異を引き起こすことを示しています

キーワード:
CAG についてDNAが繰り返されるハンティントン病神経変性不安定を繰り返す単核RNA-seq体の膨張ストライタルプロジェクションニューロントリプル重複障害

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