A5018732183- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Family and Disability Support Research
- Epigenetics and DNA Methylation
- Congenital Anomalies and Fetal Surgery
- Genomic variations and chromosomal abnormalities
- Congenital Diaphragmatic Hernia Studies
- Chromatin Remodeling and Cancer
- Nuclear Receptors and Signaling
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Endoplasmic Reticulum Stress and Disease
- MicroRNA in disease regulation
- Ion channel regulation and function
- Circular RNAs in diseases
- RNA and protein synthesis mechanisms
- Neuroscience and Neuropharmacology Research
Sant Joan de Déu Research Foundation
2019-2024
Institut de Recerca Sant Joan de Déu
2021-2024
Hospital Sant Joan de Déu Barcelona
2019-2023
Abstract MECP2 duplication syndrome (MDS) is an X‐linked neurodevelopmental disorder caused by the gain of dose at least genes and IRAK1 characterised intellectual disability (ID), developmental delay, hypotonia, epilepsy recurrent infections. It mainly affects males, females can be affected or asymptomatic carriers. Rett (RTT) triggered loss function mutations in a well described that presents ID, epilepsy, lack purposeful hand use impaired speech, among others. As result implementing omics...
Rett syndrome (RTT) is a severe neurodevelopmental disease caused almost exclusively by mutations to the MeCP2 gene. This may be regarded as synaptopathy, with impairments affecting synaptic plasticity, inhibitory and excitatory transmission network excitability. The complete understanding of mechanisms behind how transcription factor so profoundly affects mammalian brain are yet determined. What known, that involvement in activity-dependent expression programs critical link between this...
MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor behavioural features. To date, fewer than 200 cases have been published. We report the clinical molecular characterization of Spanish MDS cohort that included 19 boys 2 girls. Clinical suspicions were confirmed array comparative genomic hybridization multiplex ligation-dependent probe amplification (MLPA)....
Rett syndrome is a neuropediatric disease occurring due to mutations in MECP2 and characterized by regression the neuronal development following normal postnatal growth, which results loss of acquired capabilities such as speech or purposeful usage hands. While altered neurotransmission brain are center its pathophysiology, alterations mitochondrial performance have been previously outlined, shaping it an attractive target for treatment.We thoroughly described two models, patients' primary...
Abstract Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since gene located on X chromosome, chromosome inactivation (XCI) could play role wide range of phenotypic variation RTT patients; however, classical methylation-based protocols to evaluate XCI not determine whether preferentially inactivated carried mutant or wild-type allele. Therefore, we developed an allele-specific assay methylation at loci several recurrent mutations. We...
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene ( MECP2 ). MeCP2 multi-functional involved many cellular processes, but mechanisms which its dysfunction causes disease are not fully understood. The duplication of distinct called (MDS), highlighting importance tightly regulating dosage for proper function. Additionally, some patients with genes other than exhibit phenotypic similarities RTT,...
Rett syndrome, a serious neurodevelopmental disorder, has been associated with an altered expression of different synaptic-related proteins and aberrant glutamatergic γ-aminobutyric acid (GABA)ergic neurotransmission. Despite its severity, it lacks therapeutic option. Through this work we aimed to define the relationship between MeCP2 GABAA.-A1 receptor expression, emphasizing time dependence such relationship. For this, analyzed ionotropic subunit in gene-dosage developmental conditions,...
Noncoding RNAs play regulatory roles in physiopathology, but their involvement neurodevelopmental diseases is poorly understood. Rett syndrome a severe, progressive disorder linked to loss-of-function mutations of the
In this article, we identified a novel epileptogenic variant (G307R) of the gene SLC6A1, which encodes GABA transporter GAT-1. Our main goal was to investigate pathogenic mechanisms variant, located near neurotransmitter permeation pathway, and compare it with other variants either in pathway or close lipid bilayer. The mutants G307R A334P, gates transporter, could be glycosylated variable efficiency reached membrane, albeit inactive. Mutants center (G297R) bilayer (A128V, G550R) were...
Rett syndrome (RTT) is a developmental disorder with an early onset and X-linked dominant inheritance pattern. It first recognized in infancy seen almost always girls, but it may be boys on rare occasions. Typical RTT caused by de novo mutations of the gene MECP2 (OMIM*300005), atypical forms can CDKL5 (OMIM*300203) FOXG1 (OMIM*164874) genes.Approximately 5% detected are large rearrangements that range from exons to entire gene. Here, we have characterized deletions multiplex...
MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder caused by the gain of dose at least genes and IRAK1 characterised intellectual disability (ID), developmental delay, hypotonia, epilepsy recurrent infections. It mainly affects males, females can be affected or asymptomatic carriers. Rett (RTT) triggered loss function mutations in a well described that presents ID, epilepsy, lack purposeful hand use impaired speech, among others. As result implementing omics...
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene ( MECP2 ). MeCP2 multifunctional involved many cellular processes, but mechanisms which its dysfunction causes disease are not fully understood. The duplication of cause different disorder, (MDS), indicating that dosage must be tightly regulated for proper function. Moreover, there patients with remarkable phenotypic overlap RTT and genes other than...