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| Título: | Glutamate receptor mutations in psychiatric and neurodevelopmental disorders |
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| Autor/a: | Soto, David; Altafaj, Xavier; Sindreu, Carlos; Bayés, Àlex; Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular |
| Abstract: | Altres ajuts: Programa "Ramón y Cajal" i Programa "Miquel Servet" |
| Abstract: | Alterations in glutamatergic neurotransmission have long been associated with psychiatric and neurodevelopmental disorders (PNDD), but only recent advances in high-throughput DNA sequencing have allowed interrogation of the prevalence of mutations in glutamate receptors (GluR) among afflicted individuals. In this review we discuss recent work describing GluR mutations in the context of PNDDs. Although there are no strict relationships between receptor subunit or type and disease, some interesting preliminary conclusions have arisen. Mutations in genes coding for ionotropic glutamate receptor subunits, which are central to synaptic transmission and plasticity, are mostly associated with intellectual disability and autism spectrum disorders. In contrast, mutations of metabotropic GluRs, having a role on modulating neural transmission, are preferentially associated with psychiatric disorders. Also, the prevalence of mutations among GluRs is highly heterogeneous, suggesting a critical role of certain subunits in PNDD pathophysiology. The emerging bias between GluR subtypes and specific PNDDs may have clinical implications. |
| Materia(s): | -Glutamate receptors -Psychiatric disorders -Neurodevelopmental disorders -Intellectual disability |
| Derechos: | open access
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by-nc/4.0/ |
| Tipo de documento: | Article |
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| Uri: | https://ddd.uab.cat/record/185012 |
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