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Updated: Jul 29, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

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サイト固有のRループは,CGGの繰り返し収縮と脆弱なX遺伝子の再活性化を誘導する

Hun-Goo Lee1, Sachiko Imaichi1, Elizabeth Kraeutler1

  • 1Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02114, USA.

Cell
|May 20, 2023
PubMed
まとめ

研究者らは,MEKとBRAF阻害剤は,CGGの繰り返し拡大を収縮させ,脆弱なX症候群 (FXS) を引き起こすことを発見した. このアプローチはFMR1遺伝子を再活性化し,FMRPタンパク質の生成を回復し,FXSの将来の治療の可能性を提供します.

キーワード:
CGG 繰り返すDNAメチル化DNA 修復FMR1 についてFMRPRループX関連疾患自閉症スペクトル障害脆弱なX症候群遺伝子編集遺伝子再活性化神経発達障害収縮を繰り返す繰り返し膨張障害トリヌクレオチドを繰り返す

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