Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in Neurons
| العنوان: | Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in Neurons |
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| المؤلفون: | David Orduz, Tristan Bouschet, Patrick Van Bogaert, Regis Azizieh, Wendy Rodriguez, Isabelle Pirson, Marc Abramowicz, Serge N. Schiffmann |
| المصدر: | Molecular Neurobiology. 44:111-121 |
| بيانات النشر: | Springer Science and Business Media LLC, 2011. |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | Potassium Channels, KCTD7, Nonsense mutation, Neuroscience (miscellaneous), Action Potentials, Progressive myoclonus epilepsy, Biology, Hippocampus, Mice, Purkinje Cells, Cellular and Molecular Neuroscience, Antibody Specificity, Chlorocebus aethiops, medicine, Animals, Humans, Immunoprecipitation, RNA, Messenger, Patch clamp, Cells, Cultured, Neurons, Zinc finger, Cullin Proteins, Myoclonic Epilepsies, Progressive, medicine.disease, Olfactory Bulb, Resting potential, Potassium channel, Cell biology, Protein Transport, medicine.anatomical_structure, Gene Expression Regulation, Neurology, Biochemistry, COS Cells, Neuron, Protein Multimerization, Ion Channel Gating, Protein Binding |
| الوصف: | The potassium channel tetramerization domain-containing protein 7 (KCTD7) was named after the structural homology of its predicted N-terminal broad complex, tramtrack and bric à brac/poxvirus and zinc finger domain with the T1 domain of the Kv potassium channel, but its expression profile and cellular function are still largely unknown. We have recently reported a homozygous nonsense mutation of KCTD7 in patients with a novel form of autosomal recessive progressive myoclonic epilepsy. Here, we show that KCTD7 expression hyperpolarizes the cell membrane and reduces the excitability of transfected neurons in patch clamp experiments. We found the expression of KCTD7 in the hippocampal and Purkinje cells of the murine brain, an expression profile consistent with our patients' phenotype. The effect on the plasma membrane resting potential is possibly mediated by Cullin-3, as we demonstrated direct molecular interaction of KCTD7 with Cullin-3 in co-immunoprecipitation assays. Our data link progressive myoclonic epilepsy to an inherited defect of the neuron plasma membrane's resting potential in the brain. |
| تدمد: | 1559-1182 0893-7648 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94ba3ffd13b1a586fad861a11196eca0Test https://doi.org/10.1007/s12035-011-8194-0Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....94ba3ffd13b1a586fad861a11196eca0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15591182 08937648 |
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