A5036259472- Zebrafish Biomedical Research Applications
- Congenital heart defects research
- Cardiovascular Effects of Exercise
- Melanoma and MAPK Pathways
- MicroRNA in disease regulation
- Immunotherapy and Immune Responses
- CAR-T cell therapy research
- Pancreatic function and diabetes
- Mitochondrial Function and Pathology
- Developmental Biology and Gene Regulation
- Advanced Fluorescence Microscopy Techniques
- Cardiomyopathy and Myosin Studies
- Cancer Cells and Metastasis
- Sports injuries and prevention
- Cardiac electrophysiology and arrhythmias
- Epigenetics and DNA Methylation
- Cell Image Analysis Techniques
- Photoacoustic and Ultrasonic Imaging
- Cytokine Signaling Pathways and Interactions
- ATP Synthase and ATPases Research
- HER2/EGFR in Cancer Research
- Ion channel regulation and function
- Pluripotent Stem Cells Research
- Genetics and Physical Performance
- CRISPR and Genetic Engineering
University of Padua
2016-2025
Zero to Three
2009
San Raffaele University of Rome
2001
Transgenomic (United States)
2001
Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda
2001
University of Pavia
2001
Fondazione Salvatore Maugeri
2001
University of Siena
2001
National Human Genome Research Institute
2001
National Institutes of Health
2001
Background —Catecholaminergic polymorphic ventricular tachycardia is a genetic arrhythmogenic disorder characterized by stress-induced, bidirectional that may degenerate into cardiac arrest and cause sudden death. The electrocardiographic pattern of this closely resembles the arrhythmias associated with calcium overload delayed afterdepolarizations observed during digitalis toxicity. We speculated genetically determined abnormality intracellular handling might be substrate disease;...
Arrhythmogenic right ventricular dysplasia type 2 (ARVD2, OMIM 600996) is an autosomal dominant cardiomyopathy, characterized by partial degeneration of the myocardium ventricle, electrical instability and sudden death. The disease locus was mapped to chromosome 1q42–q43. We report here on physical mapping critical ARVD2 region, exclusion two candidate genes (actinin nidogen), elucidation genomic structure cardiac ryanodine receptor gene (RYR2) identification RYR2 mutations in four...
Background —Familial polymorphic ventricular tachycardia is an autosomal-dominant, inherited disease with a relatively early onset and mortality rate of ≈30% by the age 30 years. Phenotypically, it characterized salvoes bidirectional tachycardias in response to vigorous exercise, no structural evidence myocardial disease. We previously mapped causative gene chromosome 1q42-q43. In present study, we demonstrate that patients familial have missense mutations cardiac sarcoplasmic reticulum...
Autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVD, MIM 107970) is one of the major causes juvenile sudden death. We have previously assigned disease locus to chromosome 14q23–q24. Here we report on a novel variant ARVD, which transmitted associated 1q42–q43 and characterized by concealed form, showing effort-induced polymorphic tachycardias. Since both loci ARVD1 ARVD2 map in proximity a-actinin genes, possible implication these myofibrillar proteins pathogenesis ARVD...
In this paper we describe a novel 19 kDa sarcomeric protein named telethonin. The cDNA sequence discloses an open reading frame of 167 amino acids that does not resemble any known protein. Antibodies against recombinant telethonin fragment were used for Western blot analysis, confirming the presence in heart and skeletal muscle revealing immunofluorescence pattern typical proteins, overlapping myosin. frequency specific clones different libraries indicates transcript is amongst most abundant...
One of the biggest challenges in tumour research is possibility to reprogram cancer cells towards less aggressive phenotypes. In this study, we reprogrammed primary Glioblastoma multiforme (GBM)-derived a more differentiated and oncogenic phenotype by activating Wnt pathway hypoxic microenvironment. Hypoxia usually correlates with malignant behaviours cells, but it has been recently involved, together signalling, differentiation embryonic neural stem cells. Here, demonstrate that treatment...
Abstract Mapping neuronal activity during the onset and propagation of epileptic seizures can provide a better understanding mechanisms underlying this pathology improve our approaches to development new drugs. Recently, zebrafish has become an important model for studying epilepsy both in basic research drug discovery. Here, we employed transgenic line with pan-neuronal expression genetically-encoded calcium indicator GCaMP6s measure larvae induced by pentylenetretrazole (PTZ). With...
STAT3 and HIF1α are two fundamental transcription factors involved in many merging processes, like angiogenesis, metabolism, cell differentiation. Notably, under pathological conditions, the have been shown to interact genetically, but both molecular mechanisms underlying such interactions their relevance physiological conditions remain unclear. In mouse embryonic stem cells (ESCs) we manage determine specific subset of hypoxia-induced genes that need be properly transcribed and, among them,...
In vertebrates, the embryonic dorsoventral asymmetry is regulated by bone morphogenetic proteins (Bmp) activity gradient. present study, we have used dorsalized swirl (bmp2b) and ventralized chordino (chordin) zebrafish mutants to investigate effects of signalling on endoderm patterning differentiation positioning its derivatives. Alterations Bmp do not perturb induction endodermal precursors, as shown normal amounts cells expressing cas sox17 in gastrulae, but affect dramatically expression...
We report the molecular and functional characterisation of a novel peptide transporter from zebrafish, orthologue to mammalian avian PEPT1. Zebrafish PEPT1 is low‐affinity/high‐capacity system. However, in contrast higher vertebrate counterparts which maximal transport activity independent extracellular pH, zebrafish rates unexpectedly increase at alkaline pH. pept1 highly expressed proximal intestine since day 4 post‐fertilisation, thus preceding maturation gut, first feeding complete yolk...
Formation and remodeling of vascular beds are complex processes orchestrated by multiple signaling pathways. While it is well accepted that vessels a particular organ display specific features enable them to fulfill distinct functions, the embryonic origins tissue-specific vessels, as molecular mechanisms regulating their formation, poorly understood. The subintestinal plexus zebrafish embryo comprises vascularize gut, liver pancreas, such represents an ideal model investigate early steps...
Abstract Glucocorticoids (GCs) play important roles in developmental and physiological processes through the transcriptional activity of their cognate receptor (Gr). Using CRISPR/Cas9 technology, we established a zebrafish null Gr mutant line compared its phenotypes with wild type partially silenced gr ( s357 / ). Homozygous −/− larvae are morphologically inconspicuous and, contrast to GR knockout mice, viable adulthood, although reduced fitness early life survival. Mutants fertile, but...
Context:The pathogenesis of congenital hypothyroidism (CH) is still largely unexplained. We previously reported that perturbations the Notch pathway and knockdown ligand jagged1 cause a hypothyroid phenotype in zebrafish. Heterozygous JAG1 variants are known to account for Alagille syndrome type 1 (ALGS1), rare multisystemic developmental disorder characterized by variable expressivity penetrance.
ABSTRACT The STAT3 transcription factor, acting both in the nucleus and mitochondria, maintains embryonic stem cell pluripotency promotes their proliferation. In this work, using zebrafish, we determined vivo that mitochondrial regulates mtDNA larval niches activity affects proliferation rates. As a result, demonstrated import of inside mitochondria requires Y705 phosphorylation by Jak, whereas its transcriptional activity, as well effect on proliferation, depends MAPK target S727. These...
The mitochondrial protein IF1 binds to the catalytic domain of ATP synthase and inhibits hydrolysis in ischemic tissues. Moreover, is overexpressed many tumors has been shown act as a pro-oncogenic protein, although its mechanism action still debated. Here, we show that ATP5IF1 gene disruption HeLa cells decreases colony formation soft agar tumor mass development xenografts, underlining role cancer. Notably, lack does not affect proliferation or oligomycin-sensitive respiration, but it...