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Updated: Feb 5, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.5K

変異 変異 変異 変異 変異 変異 変異 変異

Katrina Meyer1, Marieluise Kirchner1, Bora Uyar2

  • 1Proteome Dynamics, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Robert-Rössle-Str. 10, 13125 Berlin, Germany.

Cell
|September 11, 2018
PubMed
まとめ

本質的に乱れた領域 (IDR) の突然変異は,クラトリンの結合を増加させ,タンパク質の誤局化につながる病気を引き起こす可能性があります. この研究は,得られたディリューシンのモチーフを,これらの"ディリューシノパシー"を駆動する重要なメカニズムとして特定しています.

キーワード:
Glut1欠乏症症候群ディレウシンモチーフ細胞内密輸エピレプシー本質的な障害マススペクトロメトリーポイント変異タンパク質とタンパク質の相互作用プロテオミクス

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Peptide-based Identification of Functional Motifs and their Binding Partners

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