Epileptic encephalopathy de novoGABRBmutations impair γ-aminobutyric acid type A receptor function
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چکیده
منابع مشابه
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The inhibitory tone maintained throughout the central nervous system relies predominantly on the activity of neuronal GABAA (γ -aminobutyric acid type A) receptors. This receptor family comprises various subtypes that have unique regional distributions, but little is known about the role played by each subtype. The majority of the receptors contain a γ 2 subunit and are sensitive to modulation ...
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Ligand-gated ion channels function as rapid signal transducers, converting chemical signals (in the form of neurotransmitters) into electrical signals in the postsynaptic neuron. This is achieved by the recognition of neurotransmitter at its specific-binding sites, which then triggers the opening of an ion channel (‘gating’). For this to occur rapidly (<1 ms), there must be an efficient couplin...
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OBJECTIVE To elucidate the functional consequences of epileptic encephalopathy-causing de novo mutations in DNM1 (A177P, K206N, G359A), which encodes a large mechanochemical GTPase essential for neuronal synaptic vesicle endocytosis. METHODS HeLa and COS-7 cells transfected with wild-type and mutant DNM1 constructs were used for transferrin assays, high-content imaging, colocalization studies...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2016
ISSN: 0364-5134
DOI: 10.1002/ana.24631