A5000226725- Pluripotent Stem Cells Research
- Developmental Biology and Gene Regulation
- CRISPR and Genetic Engineering
- Cellular Mechanics and Interactions
- Congenital heart defects research
- Microtubule and mitosis dynamics
- RNA Research and Splicing
- Nuclear Structure and Function
- Retinal Development and Disorders
- Neuroblastoma Research and Treatments
- Tissue Engineering and Regenerative Medicine
- Neuroscience and Neural Engineering
- Electrospun Nanofibers in Biomedical Applications
- Animal Genetics and Reproduction
- Epigenetics and DNA Methylation
- Neurofibromatosis and Schwannoma Cases
- Signaling Pathways in Disease
- dental development and anomalies
- Nuclear Receptors and Signaling
- Advanced biosensing and bioanalysis techniques
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Marine Ecology and Invasive Species
- Neurogenetic and Muscular Disorders Research
- Marine Bivalve and Aquaculture Studies
- Phagocytosis and Immune Regulation
Centre for Genomic Regulation
2019-2025
Institut d'Investigació Biomédica de Bellvitge
2021-2024
Biomedical Research Networking Center in Bioengineering, Biomaterials and Nanomedicine
2012-2024
Center of Regenerative Medicine in Barcelona
2015-2023
Instituto de Salud Carlos III
2017-2021
Duran i Reynals Hospital
2019
Barcelona Biomedical Research Park
2017
Institute for Bioengineering of Catalonia
2012
Universitat de Barcelona
2003-2011
Abstract Induced pluripotent stem cells (iPSC) offer an unprecedented opportunity to model human disease in relevant cell types, but it is unclear whether they could successfully age‐related diseases such as Parkinson's (PD). Here, we generated iPSC lines from seven patients with idiopathic PD (ID‐PD), four familial associated the G2019S mutation Leucine‐Rich Repeat Kinase 2 ( LRRK2 ) gene (LRRK2‐PD) and age‐ sex‐matched healthy individuals (Ctrl). Over long‐time culture, dopaminergic...
The nucleus makes the rules Single cells continuously experience and react to mechanical challenges in three-dimensional tissues. Spatial constraints dense tissues, physical activity, injury all impose changes cell shape. How can measure shape deformations ensure correct tissue development homeostasis remains largely unknown (see Perspective by Shen Niethammer). Working independently, Venturini et al. Lomakin now show that act as an intracellular ruler cellular variations. nuclear envelope...
Abstract Quantifying the mechanical response of biological milieu (such as cell’s interior) and complex fluids biomolecular condensates) would enable a better understanding cellular differentiation aging accelerate drug discovery. Here we present time-shared optical tweezer microrheology to determine frequency- age-dependent viscoelastic properties materials. Our approach involves splitting single laser beam into two near-instantaneous traps carry out simultaneous force displacement...
Abstract The cephalochordate amphioxus ( Branchiostoma sp.) is an important animal model for studying the evolution of chordate developmental mechanisms. Obtaining embryos a key step these studies. It has been shown that increase 3–4°C in water temperature triggers spawning European lanceolatum ) captivity, however, very little known about natural behavior this species field. In work, we have followed during two seasons (2004 and 2005), both field captivity. We show animals spawn...
Adult zebrafish, in contrast to mammals, are able regenerate their hearts response injury or experimental amputation. Our understanding of the cellular and molecular bases that underlie this process, although fragmentary, has increased significantly over last years. However, role extracellular matrix (ECM) during zebrafish heart regeneration been comparatively rarely explored. Here, we set out characterize ECM protein composition adult hearts, whether it changed regenerative response. For...
Tyrosine kinase (TK) proteins play a central role in cellular behavior and development of animals. The expansion this superfamily is regarded as key event the evolution complex signaling pathways gene networks metazoans prominent example how shuffling protein modules may generate molecular novelties. Using intron/exon structure within TK domain (TK intron code) complementary tool for assignment orthology paralogy, we identified studied 118 amphioxus Branchiostoma floridae genome to elucidate...
In vitro surrogate models of human cardiac tissue hold great promise in disease modeling, cardiotoxicity testing, and future applications regenerative medicine. However, the generation engineered constructs with tissue-like functionality is currently thwarted by difficulties achieving efficient maturation at cellular and/or tissular level. Here, we report on design implementation a platform for production macrotissues from pluripotent stem cells (PSCs), which term "CardioSlice." PSC-derived...
Retinal photoreceptors have a distinct transcriptomic profile compared to other neuronal subtypes, likely reflecting their unique cellular morphology and function in the detection of light stimuli by way ciliary outer segment. We discovered layer this molecular specialization revealing that vertebrate retina expresses largest number tissue-enriched microexons all tissue types. A subset these is included exclusively photoreceptor transcripts, particularly genes involved cilia biogenesis...
In vertebrates, GATA2 is a master regulator of hematopoiesis and expressed throughout embryo development in adult life. Although the essential role mouse well established, its involvement during early human hematopoietic not clear. By combining time-controlled overexpression with genetic knockout experiments, we found that GATA2, at mesoderm specification stage, promotes generation hemogenic endothelial progenitors their further differentiation to progenitor cells, negatively regulates...
Novel organismal structures in metazoans are often undergirded by complex gene regulatory networks; as such, understanding the emergence of new through evolution requires reconstructing series evolutionary steps leading to these underlying networks. Here, we reconstruct step-by-step assembly vertebrate splicing network regulated Nova , a factor that modulates alternative central nervous system binding clusters YCAY motifs on pre-RNA transcripts. Transfection human HEK293T cells with...
We report the generation-characterization of a fetal liver (FL) B-cell progenitor (BCP)-derived human induced pluripotent stem cell (hiPSC) line CRISPR/Cas9-edited to carry/express single copy doxycycline-inducible Cas9 gene in “safe locus” AAVS1 (iCas9-FL-BCP-hiPSC). Gene-edited iPSCs remained after CRISPR/Cas9 genome-edition. Correct genomic integration unique was confirmed by PCR and Southern blot. robustly specifically expressed on doxycycline exposure. T7-endonuclease assay demonstrated...
Abstract Patient-specific induced pluripotent stem cells (iPSCs) are a powerful tool to investigate the molecular mechanisms underlying Parkinson’s disease (PD), and might provide novel platforms for systematic drug screening. Several strategies have been developed generate iPSC-derived tyrosine hydroxylase (TH)-positive dopaminergic neurons (DAn), clinically relevant cell type in PD; however, they often result mixed neuronal cultures containing only small proportion of TH-positive DAn. To...
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and a frequent cause of heart failure sudden death. Our understanding genetic bases pathogenic mechanisms underlying HCM has improved significantly in recent past, but combined effect various gene variants influence modifiers manifestation are very poorly understood. Here, we set out to investigate genotype-phenotype relationships 2 siblings with an extensive family history HCM, both carrying truncating variant...
Vertebrate Hairy genes are highly pleiotropic and have been implicated in numerous functions, such as somitogenesis, neurogenesis endocrine tissue development. In order to gain insight into the timing of acquisition these roles by subfamily, we cloned studied expression pattern gene(s) amphioxus. The cephalochordate amphioxus is widely believed be living invertebrate more closely related vertebrates, genome which has not undergone massive gene duplications that took place early during...
Abstract Regulation of microtubule (MT) dynamics is key for mitotic spindle assembly and faithful chromosome segregation. Here we show that polyglutamylation, a still understudied post-translational modification MTs, essential to define their within the range required error-free We identify TTLL11 as an enzyme driving MT polyglutamylation in mitosis reducing levels human cells or zebrafish embryos compromises segregation fidelity impairs early embryonic development. Our data reveal mechanism...
Amphioxus Hairy genes have gone through a number of lineage-specific duplications, resulting in eight members, some which are differentially expressed the embryo.In order to gain insights into evolution and function this gene family we compared their genomic structure searched for conserved noncoding sequence elements.We found that introns been lost independently from these at least twice after duplication events.By carrying out phylogenetic footprinting between paralogues embryo,...
Pallid anchovy fillet, friendly filtering, peacefully laying and little lancelet are some of the nicknames adjectives cephalochordate amphioxus has received throughout last two centuries. Traditionally regarded as living representative ancestor vertebrates, recently been promoted to privileged position being most ancient chordate. The preliminary analysis its prototypical genome is nearly completed, hidden secrets towards understanding primitive chordate deuterostome genomes will soon see...
Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types LGMD in population, where patients develop a progressive muscle degeneration. The disease is caused by mutations calpain 3 gene, with over 500 reported to date. However, molecular events that lead wasting are not clear, nor reasons for great clinical variability among patients, and this has so far hindered development effective therapies. Here we generate human induced pluripotent stem cells (iPSCs)...
Abstract The physical microenvironment regulates cell behavior during tissue development and homeostasis. How single cells decode information about their geometrical shape under mechanical stress space constraints within local environment remains largely unknown. Here we show that the nucleus, biggest cellular organelle, functions as a non-dissipative deformation gauge enables to continuously measure variations on time scale of seconds. Inner nuclear membrane unfolding together with relative...