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Updated: Sep 11, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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DNAJC7中的双变异会导致具有TDP-43病理的家族性肌缩侧面硬化症

Toru Yamashita1, Osamu Yokota2,3,4, Daiki Ousaka5

  • 1Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama, 700-8558, Japan. toruyamashita@okayama-u.ac.jp.

Acta neuropathologica
|August 13, 2025
PubMed
概括

热冲击蛋白DNAJC7中的遗传变异与家族性骨髓缩侧面硬化症 (ALS) 有关. 这项研究表明,DNAJC7缺乏会影响TDP-43蛋白清除,这是ALS的一个关键病理,并导致运动神经元退化.

关键词:
在DNAJC7中,肌缩性侧面硬化症 (AMLS) 是一种疾病.热冲击蛋白质是一种热冲击蛋白质.活细胞成像成像技术在TDP-43中使用.斑马鱼疾病模型模型

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