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Updated: Jul 6, 2025

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在IQSEC2中C端切断:对突触定位,关氨酸核酸交换因子活性和神经表现的影响

Moeko Nakashima1, Tomoko Shiroshima2, Masahiro Fukaya2

  • 1Department of Medical Genetics, NHO Tokyo Medical Center, Tokyo, 152-8902, Japan.

Journal of human genetics
|January 10, 2024
PubMed
概括

C端IQSEC2基因变异可能导致严重的智力障碍和. 这项研究详细介绍了一个患有无意义变异导致截断蛋白质的患者,影响神经元发育和突触功能.

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Fusion of Secretory Vesicles with the Plasma Membrane

Proteins and neurotransmitters in secretory vesicles can be released from a cell upon vesicle docking, priming, and fusion with the plasma membrane. Vesicles are docked and primed in preparation for the quick exocytosis of their contents in response to a stimulus. The fusion process is mainly carried out by a SNAP Receptor or SNARE complex, consisting of synaptobrevin, syntaxin-1, and SNAP-25.
In 1993, Jim Rothman proposed that the antiparallel pairing of vesicular and transmembrane SNAREs, or...
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