Explorando la interacción bioquímica entre NMDAR, Esquizofrenia infantil y Grinpatias : “Implicaciones para la claridad diagnóstica”
N-methyl D-aspartate receptors are ligand-activated ionotropic receptors that mediate a slow, calcium-permeable component of excitatory activity, which is important in synaptic transmission in the CNS. Variants in genes that encode subunits NMDARs have been associated with a spectrum of neurodevelop...
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| Format: | Tesis/Trabajo de grado - Monografía - Pregrado |
| Language: | Español |
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Universidad Antonio Nariño
2025
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| author | Cerón Gutiérrez, Andrés Felipe |
| author2 | Báez Jurado, Eliana María |
| author_facet | Báez Jurado, Eliana María Cerón Gutiérrez, Andrés Felipe |
| author_sort | Cerón Gutiérrez, Andrés Felipe |
| collection | DSpace |
| description | N-methyl D-aspartate receptors are ligand-activated ionotropic receptors that mediate a slow,
calcium-permeable component of excitatory activity, which is important in synaptic transmission in
the CNS. Variants in genes that encode subunits NMDARs have been associated with a spectrum of
neurodevelopmental disorders; these disorders include Alzheimer's disease, Huntington's disease,
depression, schizophrenia, stroke, traumatic brain injury, and epilepsy. (Benke, T. A 2021) These
disorders are known as GRINpathies given their name to the GRIN genes, which when altered
manifest a dysfunction in the NMDAR receptor mechanism. |
| format | Tesis/Trabajo de grado - Monografía - Pregrado |
| id | repositorio.uan.edu.co-123456789-12197 |
| institution | Repositorio Digital UAN |
| language | Español |
| publishDate | 2025 |
| publisher | Universidad Antonio Nariño |
| record_format | dspace |
| spelling | repositorio.uan.edu.co-123456789-121972025-02-04T21:03:52Z Explorando la interacción bioquímica entre NMDAR, Esquizofrenia infantil y Grinpatias : “Implicaciones para la claridad diagnóstica” Cerón Gutiérrez, Andrés Felipe Báez Jurado, Eliana María NMDAR gen GRIN encefalopatía infantil esquizofrenia Glun1 NMDAR GRIN gen Pediatric encephalopathy SNC Glun1 schizophrenia N-methyl D-aspartate receptors are ligand-activated ionotropic receptors that mediate a slow, calcium-permeable component of excitatory activity, which is important in synaptic transmission in the CNS. Variants in genes that encode subunits NMDARs have been associated with a spectrum of neurodevelopmental disorders; these disorders include Alzheimer's disease, Huntington's disease, depression, schizophrenia, stroke, traumatic brain injury, and epilepsy. (Benke, T. A 2021) These disorders are known as GRINpathies given their name to the GRIN genes, which when altered manifest a dysfunction in the NMDAR receptor mechanism. Los receptores de N-metil D-aspartato (NMDAR) son receptores ionotrópicos activados por ligandos que median un componente permeable al calcio de la actividad excitatoria, la cual es importante en la transmisión sináptica en el sistema nervioso central, SNC. Las variantes en genes que codifican subunidades NMDAR se han asociado con un espectro de trastornos del neurodegenerativos dentro de estos trastornos se encuentran la enfermedad de Alzheimer, la enfermedad de Huntington, la depresión, esquizofrenia, accidente cerebrovascular, lesión cerebral traumática y epilepsia a estos trastornos se les conoce como GRINpatias dado su nombre a los genes GRIN, los cuales al alterarse manifiestan una disfunción en el mecanismo de los receptores NMDAR. final Bioquímico(a) Pregrado Presencial Monografía 2025-02-04T21:03:51Z 2025-02-04T21:03:51Z 2024-06-30 2025-02-04 Tesis/Trabajo de grado - Monografía - Pregrado Estudio descriptivo info:eu-repo/semantics/draft http://purl.org/coar/resource_type/c_46ec http://purl.org/redcol/resource_type/PIC http://purl.org/coar/version/c_b1a7d7d4d402bcce https://repositorio.uan.edu.co/handle/123456789/12197 Español info:eu-repo/semantics/closedAccess http://purl.org/coar/access_right/c_16ec pdf application/pdf application/pdf application/pdf Universidad Antonio Nariño Bioquímica Facultad de Ciencias Bogotá - Circunvalar instname:Universidad Antonio Nariño Abdallah, C. G., De Feyter, H. M., Averill, L. A., Jiang, L., Averill, C. L., Chowdhury, G. M. I., Purohit, P., de Graaf, R. A., Esterlis, I., Juchem, C., Pittman, B. P., Krystal, J. H., Rothman, D. L., Sanacora, G., & Mason, G. F. (2018). The effects of ketamine on prefrontal glutamate neurotransmission in healthy and depressed subjects. Neuropsychopharmacology, 43(10), 2154–2160. https://doi.org/10.1038/s41386-018-0136-3 Adell, A. (2020). Brain NMDA Receptors in Schizophrenia and Depression. Biomolecules, 10(6), 947. https://doi.org/10.3390/biom10060947 Booker, S. A., & Wyllie, D. J. A. (2021). NMDA receptor function in inhibitory neurons. Neuropharmacology, 196, 108609. https://doi.org/10.1016/j.neuropharm.2021.108609 Carvill, G. L., Regan, B. M., Yendle, S. C., O’Roak, B. J., Lozovaya, N., Bruneau, N., Burnashev, N., Khan, A., Cook, J., Geraghty, E., Sadleir, L. G., Turner, S. J., Tsai, M. H., Webster, R., Ouvrier, R., Damiano, J. A., Berkovic, S. F., Shendure, J., Hildebrand, M. S., … Mefford, H. C. (2013). GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nature Genetics, 45(9), 1073– 1076. https://doi.org/10.1038/ng.2727 Catts, V. S., Derminio, D. S., Hahn, C. G., & Weickert, C. S. (2015). Postsynaptic density levels of the NMDA receptor NR1 subunit and PSD-95 protein in prefrontal cortex from people with schizophrenia. Npj Schizophrenia, 1(1). https://doi.org/10.1038/npjschz.2015.37 Catts, V. S., Lai, Y. L., Weickert, C. S., Weickert, T. W., & Catts, S. V. (2016). A quantitative review of the postmortem evidence for decreased cortical N-methyl-d-aspartate receptor expression levels in schizophrenia: How can we link molecular abnormalities to mismatch negativity deficits? Biological Psychology, 116, 57–67. https://doi.org/10.1016/j.biopsycho.2015.10.013 Crino, P. B. (2018). Polymicrogyria and GRIN1 mutations: Altered connections, altered excitability. In Brain (Vol. 141, Issue 3, pp. 622–623). Oxford University Press. https://doi.org/10.1093/brain/awy047 Dimassi, S., Labalme, A., Lesca, G., Rudolf, G., Bruneau, N., Hirsch, E., Arzimanoglou, A., Motte, J., de Saint Martin, A., Boutry‐Kryza, N., Cloarec, R., Benitto, A., Ameil, A., Edery, P., Ryvlin, P., De Bellescize, J., Szepetowski, P., & Sanlaville, D. (2014). A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <scp>GRIN</scp> 2A and <scp>PRRT</scp> 2 . Epilepsia, 55(2), 370–378. https://doi.org/10.1111/epi.12502 Driver, D. I., Thomas, S., Gogtay, N., & Rapoport, J. L. (2020). Childhood-Onset Schizophrenia and Early-onset Schizophrenia Spectrum Disorders. Child and Adolescent Psychiatric Clinics of North America, 29(1), 71–90. https://doi.org/10.1016/j.chc.2019.08.017 Dupuis, J. P., Nicole, O., & Groc, L. (2023a). NMDA receptor functions in health and disease: Old actor, new dimensions. Neuron, 111(15), 2312–2328. https://doi.org/10.1016/j.neuron.2023.05.002 |
| spellingShingle | NMDAR gen GRIN encefalopatía infantil esquizofrenia Glun1 NMDAR GRIN gen Pediatric encephalopathy SNC Glun1 schizophrenia Cerón Gutiérrez, Andrés Felipe Explorando la interacción bioquímica entre NMDAR, Esquizofrenia infantil y Grinpatias : “Implicaciones para la claridad diagnóstica” |
| title | Explorando la interacción bioquímica entre NMDAR, Esquizofrenia infantil y Grinpatias : “Implicaciones para la claridad diagnóstica” |
| title_full | Explorando la interacción bioquímica entre NMDAR, Esquizofrenia infantil y Grinpatias : “Implicaciones para la claridad diagnóstica” |
| title_fullStr | Explorando la interacción bioquímica entre NMDAR, Esquizofrenia infantil y Grinpatias : “Implicaciones para la claridad diagnóstica” |
| title_full_unstemmed | Explorando la interacción bioquímica entre NMDAR, Esquizofrenia infantil y Grinpatias : “Implicaciones para la claridad diagnóstica” |
| title_short | Explorando la interacción bioquímica entre NMDAR, Esquizofrenia infantil y Grinpatias : “Implicaciones para la claridad diagnóstica” |
| title_sort | explorando la interaccion bioquimica entre nmdar esquizofrenia infantil y grinpatias implicaciones para la claridad diagnostica |
| topic | NMDAR gen GRIN encefalopatía infantil esquizofrenia Glun1 NMDAR GRIN gen Pediatric encephalopathy SNC Glun1 schizophrenia |
| url | https://repositorio.uan.edu.co/handle/123456789/12197 |
| work_keys_str_mv | AT cerongutierrezandresfelipe explorandolainteraccionbioquimicaentrenmdaresquizofreniainfantilygrinpatiasimplicacionesparalaclaridaddiagnostica |
