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Updated: Oct 2, 2025

Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles
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TDP-43は,FTD-ALS遺伝子のUNC13Aに暗号的なエクソンが含まれることを抑制する

X Rosa Ma1, Mercedes Prudencio2,3, Yuka Koike2,3

  • 1Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

Nature
|February 24, 2022
PubMed
まとめ

神経退行性疾患におけるTDP-43タンパク質の喪失は,UNC13A mRNAに暗号的エクソンが含まれることを引き起こします. このスプライシングイベントは,アミオトロフィック横筋硬化症 (ALS) とフロントテンポラル認知症 (FTD) のリスクを増加させる遺伝的変異と関連しています.

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