Potassium channel dysfunction in human neuronal models of Angelman syndrome
| Autor: | Mui Hoon Nai, Hoang-Dai Tran, Huck-Hui Ng, Chwee Teck Lim, Kah-Leong Lim, Haidun Yan, Koji Itahana, Menglan Zhang, Stephanie Wai Lin Lim, Qiang Yuan, Yoko Itahana, Giuseppe D'Agostino, Yong-hui Jiang, Alfred Xuyang Sun, Eng-King Tan, Danlei Wang, Hidayat Lokman, Owen J. L. Rackham, Weonjin Yu, Stuart A. Cook, Grace Lim, Ya Yin Chang, Masahiro Fukuda, Hyunsoo Shawn Je, Jiong Tang |
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| Rok vydání: | 2019 |
| Předmět: |
Ubiquitin-Protein Ligases
Models Neurological Mice Epilepsy Calcium Channels N-Type Channelopathy Ubiquitin Seizures Angelman syndrome Potassium Channel Blockers UBE3A medicine Animals Humans Neurons Multidisciplinary Ubiquitin-Protein Ligase E3A Voltage-dependent calcium channel biology Ubiquitination medicine.disease Potassium channel Organoids biology.protein Angelman Syndrome Neuroscience |
| Zdroj: | Science. 366:1486-1492 |
| ISSN: | 1095-9203 0036-8075 |
| Popis: | Hyperexcitable neurons in brain organoids Individuals with Angelman syndrome experience intellectual disability and seizures throughout their lives. In this condition, ubiquitin-mediated degradation of a key potassium channel is disrupted, allowing for the neuronal excitability and network synchronization that leads to seizure. Sun et al. used brain organoid technology to study what happens in human neurons with a mutation in a ubiquitin ligase that is implicated in Angelman syndrome. In these in vitro models and in a mouse model of Angelman syndrome, antagonists for the potassium channel normalized neuronal excitability. Science , this issue p. 1486 |
| Databáze: | OpenAIRE |
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