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Updated: Jun 30, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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人类神经元携带同胞性疾病引起的STXBP1变种L446F携带的人类神经元的减少突触抑郁

Miriam Öttl1, Ruud F Toonen1, Matthijs Verhage1,2

  • 1Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, De Boelelaan 1085, Amsterdam 1081HV, the Netherlands.

Human molecular genetics
|March 14, 2024
PubMed
概括

在STXBP1基因的突变导致神经发育障碍. 这项研究揭示了具有同卵性STXBP1突变的人类神经元的独特电生理变化,突出了与小鼠模型的差异.

关键词:
克里斯普尔是什么意思?克里斯普尔是什么意思?在STXBP1中使用.电力生理学 电力生理学是一种.诱导多能干细胞的诱导干细胞.

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Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice08:27

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

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Long-term depression, or LTD, is one of the ways by which synaptic plasticity—changes in the strength of chemical synapses—can occur in the brain. LTD is the process of synaptic weakening that occurs over time between pre and postsynaptic neuronal connections. The synaptic weakening of LTD works in opposition to synaptic strengthening by long-term potentiation (LTP) and together are the main mechanisms that underlie learning and memory.
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