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Updated: Jan 9, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

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与神经发育综合征相关的误解突变改变了Gα功能

Marlene Fritsche1, Gaia Picozzi1, Tomas Nyman2

  • 1Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm 171 77, Sweden.

Science signaling
|December 2, 2025
PubMed
概括

罕见的GNAI1变异会导致GNAI1综合征,一种神经发育障碍. 四种变种增强多巴胺D2受体信号传递,而所有变种都破坏G蛋白GTP交换,可能解释疾病机制.

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Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

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