A5064424883- Down syndrome and intellectual disability research
- Genetics and Neurodevelopmental Disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- RNA regulation and disease
- MicroRNA in disease regulation
- Digestive system and related health
- Ubiquitin and proteasome pathways
- Pancreatic function and diabetes
- Spaceflight effects on biology
- Advanced Drug Delivery Systems
- S100 Proteins and Annexins
- RNA Research and Splicing
- Congenital heart defects research
- Cell death mechanisms and regulation
- Zebrafish Biomedical Research Applications
- Cellular Mechanics and Interactions
- Immune cells in cancer
- Advanced Fluorescence Microscopy Techniques
- Cancer therapeutics and mechanisms
- CRISPR and Genetic Engineering
- Immune Response and Inflammation
- Neuroscience and Neural Engineering
- Diabetes and associated disorders
Centre for Genomic Regulation
2018-2024
Center for Genomic Science
2023
Universitat Pompeu Fabra
2022-2023
Université Paris Cité
2023
Weatherford College
2023
Barcelona Institute for Science and Technology
2022
Institute for Research in Biomedicine
2018
Leucettinibs are substituted 2-aminoimidazolin-4-ones (inspired by the marine sponge natural product Leucettamine B) developed as pharmacological inhibitors of DYRK1A (dual-specificity, tyrosine phosphorylation-regulated kinase 1A), a therapeutic target for indications such Down syndrome and Alzheimer's disease. Leucettinib-21 was selected drug candidate following extensive structure/activity studies multiparametric evaluations. We here report its physicochemical properties (X-ray powder...
Research on microglia in Down syndrome (DS) has shown that microglial activation, increased inflammatory gene expression, and oxidative stress occur at different ages DS brains. However, most studies resulted simplistic definitions of as quiescent or active, ignoring potential intermediate states. Indeed, recent work cells young brains indicated those evolve through activation phenotypes before reaching a fully activated state. Here we used single nucleus RNA sequencing, to examine how...
Abstract Actin cytoskeleton dynamics is critical for nervous system development and function, yet the role of alternative splicing in controlling these processes poorly understood. A highly conserved subset neuronal-specific microexons coordinates fundamental aspects biology. exons enriched genes involved actin cytoskeleton, their functions are unknown. Here, we focus on a microexon DAAM1, member formin-homology-2 (FH2) domain class proteins, which have diverse associated with reorganization...
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...
An estimated 285 million people were living with diabetes in 2010, and this number is expected to reach 440 by 2030. Current treatment of disease involves the intradermal injection insulin analogues. Many alternative administration routes have been proposed, oral route being most widely studied. One interesting approaches for delivery use permeation enhancers increase its transport across gastrointestinal tract (GIT). Cell-penetrating peptides (CPPs) are a remarkable example family...
BackgroundVisual impairments are a critical medical hurdle to be addressed in modern society. Müller glia (MG) have regenerative potential the retina lower vertebrates, but not mammals. However, mice, vivo cell fusion between MG and adult stem cells forms hybrids that can partially regenerate ablated neurons.MethodsWe used organotypic cultures of human preparations dissociated test hypothesis induce neuronal regeneration systems. Moreover, we established microinjection system for...
Research on microglia in Down syndrome (DS) has shown that microglial activation, increased inflammatory gene expression, and oxidative stress occur at different ages DS brains. However, most studies resulted simplistic definitions of as quiescent or active, ignoring potential intermediate states. a recent work cells young brains indicated those evolve through activation phenotypes before reaching full activated state. Here we used single nucleus RNA sequencing, to examine how trisomy...
Down syndrome (DS) stands as the prevalent genetic cause of intellectual disability, yet comprehensive understanding its cellular and molecular underpinnings remains limited. In this study, we explore landscape hippocampus in a DS mouse model through single-nuclei transcriptional profiling. Our findings demonstrate that trisomy manifests highly specific modification transcriptome within distinct cell types. Remarkably, observed significant shift transcriptomic profile granule cells dentate...
With a prevalence of 2-4% the worldwide population, neurodevelopmental disorders (NDDs) comprise heterogeneous group associated with dysfunction, including intellectual disability (ID), autism spectrum disorder (ASD), Down syndrome (DS) and attention-deficit/hyperactivity (ADHD) among others. However, due to their heterogeneity overlapping clinical features, NDDs such as ASD are often misdiagnosed, while for others more distinct symptoms, Rett or DS, mechanisms underlying pathogenesis remain...
Abstract Down syndrome (DS) is the most common genetic cause of intellectual disability. Even though advances in last decades have allowed better delineation its pathogenetic mechanisms, cellular and molecular bases are still poorly understood. Here, single-nuclei transcriptional profiles hippocampus a DS mouse model revealed that trisomy results highly cell-type specific alteration transcriptome. Strikingly, we observe major transcriptomic shift trisomic granule cells from dentate gyrus...
Down syndrome (DS) is the most common genetic form of intellectual disability (ID). The cellular and molecular mechanisms contributing to ID in DS are not completely understood. Recent evidence indicates that a given memory encoded by sparsely distributed neurons, highly activated during learning, engram cells. Intriguingly, paramount importance for formation impaired DS. Here we explored mouse model, Ts65Dn found reduced number cells dentate gyrus (DG), suggesting neuronal allocation...
Abstract Individuals with Down syndrome (DS) have a higher prevalence of obesity compared to the general population. Conventionally, this has been attributed endocrine issues and lack exercise. However, recent research suggests that deficits in neural reward responses dopaminergic disturbances DS may be contributing factors. To investigate further, we focused on mouse model (Ts65Dn) bearing some triplicated genes homologous trisomy 21. Through detailed meal pattern analysis Ts65Dn mice,...
Abstract Individuals with Down syndrome (DS) have a higher prevalence of obesity than the general population. This has traditionally been attributed to endocrine issues and deficient exercise. However, development is coupled deficits in neural reward responses, previous works showed dopaminergic disturbances DS. We here tested hypothesis that “hedonic” overeating may play central role as consequence sub-functional neurotransmission mouse model bears triplicate many most genes trisomy 21,...