Hyperekplexia-associated mutations in the neuronal glycine transporter 2
| Autor: | Esther Arribas-González, Carmen Aragón, Beatriz López-Corcuera |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
GlyT2 Neurotransmission Biology Inhibitory postsynaptic potential Glycine transporter Synaptic Transmission 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Receptors Glycine Glycine Plasma Membrane Transport Proteins medicine Missense mutation Animals Humans Hyperekplexia Glycine receptor Neurons Dominant mutation Structure Cell Biology 030104 developmental biology Glycine transporter 2 Glycine Mutation biology.protein medicine.symptom Neuroscience 030217 neurology & neurosurgery Intracellular trafficking |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| Popis: | Hyperekplexia or startle disease is a dysfunction of inhibitory glycinergic neurotransmission characterized by an exaggerated startle in response to trivial tactile or acoustic stimuli. Although rare, this disorder can have serious consequences, including sudden infant death. One of the most frequent causes of hyperekplexia are mutations in the SLC6A5 gene, encoding the neuronal glycine transporter 2 (GlyT2), a key component of inhibitory glycinergic presynapses involved in synaptic glycine recycling though sodium and chloride-dependent co-transport. Most GlyT2 mutations detected so far are recessive, but two dominant missense mutations have been described. The detailed analysis of these mutations has revealed structural cues on the quaternary structure of GlyT2, and opens the possibility that novel selective pharmacochaperones have potential therapeutic effects in hyperekplexia. |
| Databáze: | OpenAIRE |
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