遗传性子疾病是由PRNP的新型框架转移突变引起的,导致157号编码子中的蛋白质截断

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Updated: Sep 17, 2025

Protein Misfolding Cyclic Amplification of Prions
10:12

Protein Misfolding Cyclic Amplification of Prions

Published on: November 7, 2012

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Leah Holm-Mercer1,2, Tze How Mok1,2, Danielle Sequeira1,2

  • 1MRC Prion Unit at UCL, UCL Institute of Prion Diseases, University College London, London, UK.

Journal of Alzheimer's disease : JAD
|July 4, 2025
PubMed
概括

一种新型的PRNP突变导致遗传性子疾病与全身性粉症和认知衰退,模仿阿尔茨海默病. 生物标志物显示出类似AD的模式,突出显示了病中断突变.

关键词:
阿尔茨海默病的疾病阿尔茨海默病的疾病.大脑粉样性血管病变 - 大脑粉样性血管病变框架移位突变突变是什么?神经纤维状的纠结普里昂病是什么?普里昂病是什么?

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