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Updated: May 1, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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接触部位蛋白Tomm70的患者特异性突变导致神经退行

Vranda Garg1, Wiebke Möbius2, Ralf Heinrich1

  • 1Department of Cellular Neurobiology, Georg-August-University Göttingen, 37077 Göttingen, Germany.

Disease models & mechanisms
|March 28, 2025
PubMed
概括

线粒体与ER接触至关重要的TOMM70基因发生突变,导致遗传性性. 斑马鱼模型显示,这会损害线粒体运输,并导致神经退行,模仿人类疾病.

关键词:
细胞内膜网膜 - 线粒体接触点的接触点神经退行发生神经退行.在Tomm7070中使用.斑马鱼是一种斑马鱼.

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