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Updated: Sep 18, 2025

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
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Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

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酸酸3-激酶调节子单元1 (PIK3R1) 中的一种新型框架转移突变会导致免疫缺陷和肌缩侧面硬化症 (ALS)

Brice Calco1, Colin L Sweeney2, Joseph Steiner3

  • 1Neuroimmunopathogenesis Unit, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Maryland.

bioRxiv : the preprint server for biology
|June 26, 2025
PubMed
概括

一个PIK3R1突变会导致哈普洛缺陷,导致运动神经元功能障碍和亡. 这一发现揭示了PIK3R1在神经元生存和功能中的新角色.

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