Cargando…
Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders
Glycine receptors (GlyRs) containing the α2 subunit govern cell fate, neuronal migration and synaptogenesis in the developing cortex and spinal cord. Rare missense variants and microdeletions in the X-linked GlyR α2 subunit gene (GLRA2) have been associated with human autism spectrum disorder (ASD),...
Autores principales: | Chen, Xiumin, Wilson, Katie A., Schaefer, Natascha, De Hayr, Lachlan, Windsor, Mark, Scalais, Emmanuel, van Rijckevorsel, Germaine, Stouffs, Katrien, Villmann, Carmen, O’Mara, Megan L., Lynch, Joseph W., Harvey, Robert J. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9103196/ https://www.ncbi.nlm.nih.gov/pubmed/35571374 http://dx.doi.org/10.3389/fnmol.2022.886729 |
Ejemplares similares
-
The GlyR Extracellular β8–β9 Loop – A Functional Determinant of Agonist Potency
por: Janzen, Dieter, et al.
Publicado: (2017) -
Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function
por: Zhang, Yan, et al.
Publicado: (2017) -
Contribution of GlyR α3 Subunits to the Sensitivity and Effect of Ethanol in the Nucleus Accumbens
por: San Martin, Loreto S., et al.
Publicado: (2021) -
Systemic delivery of human GlyR IgG antibody induces GlyR internalization into motor neurons of brainstem and spinal cord with motor dysfunction in mice
por: Carvajal‐González, A., et al.
Publicado: (2020) -
Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses
por: Leacock, Sophie, et al.
Publicado: (2018)