A5014188620- Down syndrome and intellectual disability research
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Cancer-related molecular mechanisms research
- Dementia and Cognitive Impairment Research
- Circular RNAs in diseases
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Ubiquitin and proteasome pathways
- Diabetes and associated disorders
- RNA modifications and cancer
- Healthcare Systems and Public Health
- Mitochondrial Function and Pathology
- COVID-19 Clinical Research Studies
- Cytokine Signaling Pathways and Interactions
- Genomics and Phylogenetic Studies
- Neuroinflammation and Neurodegeneration Mechanisms
- NF-κB Signaling Pathways
- Immune Response and Inflammation
- Prenatal Screening and Diagnostics
- RNA Research and Splicing
- Extracellular vesicles in disease
- Tryptophan and brain disorders
- Biochemical Analysis and Sensing Techniques
- Phagocytosis and Immune Regulation
Universitat Pompeu Fabra
2016-2023
Centre for Genomic Regulation
2016-2023
Hospital del Mar Research Institute
2021-2023
Hospital Del Mar
2021-2023
SOM Biotech (Spain)
2023
Université Paris Cité
2023
Weatherford College
2023
Municipal Institute for Medical Research
2022
Centre for Biomedical Network Research on Rare Diseases
2018-2021
Barcelona Institute for Science and Technology
2018-2021
Abstract Long noncoding RNAs (lncRNAs) are non-protein coding regulating gene expression. Although for some lncRNAs a relevant role in hypoxic endothelium has been shown, the regulation and function of is still largely unknown vascular physio-pathology. Taking advantage next-generation sequencing techniques, transcriptomic changes induced by endothelial cell exposure to hypoxia were investigated. Paired-end polyadenylated RNA derived from human umbilical vein cells (HUVECs) exposed 1% O 2 or...
Several transcription factors (TFs) oscillate, periodically relocating between the cytoplasm and nucleus. NF-κB, which plays key roles in inflammation cancer, displays oscillations whose biological advantage remains unclear. Recent work indicated that NF-κB sustained can be entrained, is, reach a persistent synchronized state through small periodic perturbations. We show here for our GFP-p65 knock-in cells behaves as damped oscillator able to synchronize variety of external perturbations...
Abstract SARS-CoV-2 infection has spread uncontrollably worldwide while it remains unknown how vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID-19 pandemic. Individuals with DS have more risk of infections respiratory complications and present signs auto-inflammation. They also multiple comorbidities that associated poorer prognosis in general population. All this might place at higher or clinical outcomes. In order to get insight into interplay...
Abstract The current SARS-CoV-2 outbreak, which causes COVID-19, is particularly devastating for individuals with chronic medical conditions, in particular those Down Syndrome (DS) who often exhibit a higher prevalence of respiratory tract infections, immune dysregulation and potential complications. incidence Alzheimer’s disease (AD) much DS than the general population, possibly increasing further risk COVID-19 infection its Here we provide biological overview regard to specific...
Background: The unprecedented proliferation of new psychoactive substances (NPS) threatens public health and challenges drug policy. Information on NPS pharmacology toxicity is, in most cases, unavailable or very limited and, given the large number compounds released market each year, their timely evaluation by current standards is certainly challenging. Aims: We present here a metabolomics-targeted approach to predict pharmacological profile NPS. Methods: have created machine learning...
Down syndrome (DS), caused by trisomy of chromosome 21, is the most common genetic cause intellectual disability. We recently discovered that green tea extracts containing epigallocatechin-3-gallate (EGCG) improve cognition in mice transgenic for Dyrk1a (TgDyrk1A) and a trisomic DS mouse model (Ts65Dn). Interestingly, paired with cognitive stimulation, has beneficial pro-cognitive effects individuals. Dual Specificity Tyrosine-Phosphorylation-Regulated Kinase 1A (DYRK1A) major candidate to...
Abstract Down syndrome (DS) is the main genetic cause of intellectual disability due to triplication human chromosome 21 (HSA21). Although there no treatment for disability, environmental enrichment (EE) and administration green tea extracts containing epigallocatechin-3-gallate (EGCG) improve cognition in mouse models individuals with DS. Using proteome, phosphoproteome analysis hippocampi a DS model (Ts65Dn), we investigated possible mechanisms underlying effects extracts, EE their...
DYRK1A is a dual-specificity kinase that overexpressed in Down syndrome (DS) and plays key role neurogenesis, neuronal differentiation function, cognitive phenotypes, aging. Dyrk1A has also been implicated cerebellar abnormalities observed association with DS, normalization of dosage rescues granular Purkinje cell densities trisomic DS mouse model. However, the underlying molecular mechanisms governing these processes are unknown.To shed light on effects overexpression cerebellum, here we...
Abstract The function of astrocytes intertwines with the extracellular matrix, whose neuron and glial cell‐derived components shape neuronal plasticity. Astrocyte abnormalities have been reported in brain mouse model for fragile X syndrome (FXS), most common cause inherited intellectual disability, a monogenic autism spectrum disorder. We compared human FXS control generated from induced pluripotent stem cells we found increased expression urokinase plasminogen activator (uPA), which...
The use of mouse models has revolutionized the field Down syndrome (DS), increasing our knowledge about neuropathology and helping to propose new therapies for cognitive impairment. However, concerns reproducibility results in mice their translatability humans have become a major issue, controlling moderators behavior is essential. Social environmental factors, experience researcher, sex strain animals can all effects on behavior, impact DS not been explored. Here we analyzed influence...
The transcriptional landscape of Klinefelter syndromeduring early embryogenesis remains elusive. This study aimed to evaluate the impact X chromosome overdosage in 47,XXY males induced pluripotent stem cells (iPSCs) obtained from patients with different genomic backgrounds and ethnicities.We derived characterized 15 iPSC lines four Saudi KS one 46,XY male. We performed a comparative analysis using KS-iPSCs cohort European North American KS-iPSCs.We identified panel X-linked autosomal genes...
Traditional neuropsychological tests accurately describe the current cognitive state but fall short to characterize change over multiple time periods. We present an innovative approach remote monitoring of executive functions on a monthly basis, which leverages performance indicators from self-administered computerized training games (NUP-EXE). evaluated measurement properties NUP-EXE in N = 56 individuals (59% women, 60-80 years) at increased risk Alzheimer's disease (APOE-ϵ4 carriers with...
Current risk calculations for trisomy 21, which are based on multiples of median (MoM), do not take into account possible differences between euploid and 21 pregnancies that may develop with gestational age. In order to optimize the predictive value screening tests, we calculated ratio maternal serum concentration alpha-fetoprotein (AFP) human chorionic gonadotropin (hCG) in pregnancies.The medians ratios, [AFP]/[hCG] at 16-21 weeks gestation, were plotted as a function age 307 cases...
Obesogenic diets lead to overeating and obesity by inducing the expression of genes involved in hedonic homeostatic responses specific brain regions. However, how effects on gene are coordinated so far remains largely unknown. In our study, we provided mice with access energy-dense diet, which induced overweight, explored transcriptome changes across main regions feeding energy balance: hypothalamus, frontal cortex, striatum. Interestingly, detected two regulatory processes: a switch-like...
Abstract Background: SARS-CoV-2 has spread uncontrollably worldwide while we still ignore how particularly vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID-19 pandemic. Individuals with DS have more risk of infections respiratory complications and present signs auto-inflammation. They also suffer from multiple comorbidities that associated poorer prognosis in general population. All this might place at higher infection or clinical outcomes. Methods: In...
Abstract Background Interventions based on the modification of several lifestyle factors have provided promising results to maintain cognitive function in late/middle‐aged individuals at higher risk developing Alzheimer’s disease (AD). Framed under WW‐FINGERS network, PENSA clinical trial is focused prevention decline with subjective who are also APOEε4 carriers. It consists a 12‐month multimodal intervention supplemented EGCG, natural flavonoid from green tea. In this study, we looked for...