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Updated: Feb 20, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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GAP ドメイン V1646Cfs*7 変異種が結核性硬化症複合体におけるタンパク質の安定性と相互作用ネットワークを変化させる

Kagistia Hana Utami1, Velda X Han2,3, Nur Amirah Bte Mohammad Yusof4

  • 1Keio University Regenerative Medicine Research Center, Kawasaki, Japan.

Neurology. Genetics
|February 19, 2026
PubMed
まとめ

新しい結核性硬化症複合体 (TSC) 遺伝子変異種 (TSC2 p.V1646Cfs*7) は,断絶されたタンパク質を引き起こし,加速された退化をもたらし,RNA代謝とミトファギに影響を与えます. これにより,TSCの病原性および精密医学のアプローチの理解が深まります.

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