ArticleEuropean journal of human genetics : EJHG2015
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 69 citations in OpenAlex.
- Rett and Rett-related disorders: Common mechanisms for shared symptoms?Experimental biology and medicine (Maywood, N.J.) · 2023Review
- Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies.Journal of developmental biology · 2022Review
- Advances in the pathogenesis of Rett syndrome using cell models.Animal models and experimental medicine · 2022Review
- CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.Biochemical Society transactions · 2022Review
- Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular Perspective.International journal of molecular sciences · 2022Review
- Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review.Frontiers in neurology · 2022Review
- JNK signaling provides a novel therapeutic target for Rett syndrome.BMC biology · 2021Article
- A familiar study on self-limited childhood epilepsy patients using hIPSC-derived neurons shows a bias towards immaturity at the morphological, electrophysiological and gene expression levels.Stem cell research & therapy · 2021Article
- Ultrastructural localization of glutamate delta 1 (GluD1) receptor immunoreactivity in the mouse and monkey striatum.The Journal of comparative neurology · 2021Article
- Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.Journal of neurochemistry · 2021Review
- Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies.Neuroscience and biobehavioral reviews · 2021Review
- Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models.Frontiers in neuroscience · 2021Review
- High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.European journal of human genetics : EJHG · 2020Article
- Striatal glutamate delta-1 receptor regulates behavioral flexibility and thalamostriatal connectivity.Neurobiology of disease · 2020Article
- Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.Neural plasticity · 2020Review
- Article
- In Silico Study of Rett Syndrome Treatment-Related Genes,International journal of molecular sciences · 2019Article
- Review
- Induced pluripotent stem cells for neural drug discovery.Drug discovery today · 2019Review
- Progress in the molecular mechanisms of genetic epilepsies using patient-induced pluripotent stem cells.Epilepsia open · 2018Review
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
Rett syndrome is a monogenic disease due to de novo mutations in either MECP2 or CDKL5 genes. In spite of their involvement in the same disease, a functional interaction between the two genes has not been proven. MeCP2 is a transcriptional regulator; CDKL5 encodes for a kinase protein that might be involved in the regulation of gene expression. Therefore, we hypothesized that mutations affecting the two genes may lead to similar phenotypes by dysregulating the expression of common genes. To test this hypothesis we used induced pluripotent stem (iPS) cells derived from fibroblasts of one Rett patient with a MECP2 mutation (p.Arg306Cys) and two patients with mutations in CDKL5 (p.Gln347Ter and p.Thr288Ile). Expression profiling was performed in CDKL5-mutated cells and genes of interest were confirmed by real-time RT-PCR in both CDKL5- and MECP2-mutated cells. The only major change in gene expression common to MECP2- and CDKL5-mutated cells was for GRID1, encoding for glutamate D1 receptor (GluD1), a member of the δ-family of ionotropic glutamate receptors. GluD1 does not form AMPA or NMDA glutamate receptors. It acts like an adhesion molecule by linking the postsynaptic and presynaptic compartments, preferentially inducing the inhibitory presynaptic differentiation of cortical neurons. Our results demonstrate that GRID1 expression is downregulated in both MECP2- and CDKL5-mutated iPS cells and upregulated in neuronal precursors and mature neurons. These data provide novel insights into disease pathophysiology and identify possible new targets for therapeutic treatment of Rett syndrome.
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