HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade

Overview of attention for article published in Frontiers in Neurology, June 2019

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@bambi_mkk 神経内科領域で話題になっているdominant negativeと言えばHTRA1(CARASIL遺伝子)のmutationによる白質病変を示す症例のようですね。HTRA1は三量体を形成しています。最近の報告では、西欧では1/450人、日本では1/200人程度が持っているという報告もあるようです。 https://t.co/wD8YOqBCTr

21 Feb 2022

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