A5063125844- Retinal Development and Disorders
- Advanced Proteomics Techniques and Applications
- Metabolomics and Mass Spectrometry Studies
- Cellular transport and secretion
- interferon and immune responses
- Protein Structure and Dynamics
- Celiac Disease Research and Management
- Microbial Metabolic Engineering and Bioproduction
- Machine Learning in Bioinformatics
- Gene expression and cancer classification
- Genetics, Bioinformatics, and Biomedical Research
- Mass Spectrometry Techniques and Applications
- Hippo pathway signaling and YAP/TAZ
- Computational Drug Discovery Methods
- Enzyme Structure and Function
- Radiopharmaceutical Chemistry and Applications
- Bioinformatics and Genomic Networks
- Cell Adhesion Molecules Research
- Receptor Mechanisms and Signaling
- RNA regulation and disease
- Vascular Malformations Diagnosis and Treatment
- Enzyme Catalysis and Immobilization
- Neurofibromatosis and Schwannoma Cases
- Adipose Tissue and Metabolism
- Cancer-related molecular mechanisms research
Telethon Institute Of Genetics And Medicine
2023-2025
Uppsala University
2025
University of Naples Federico II
2024
Istituto Giannina Gaslini
2024
Istituti di Ricovero e Cura a Carattere Scientifico
2024
Istituto per le Applicazioni del Calcolo Mauro Picone
2021
National Research Council
2015-2021
University of Basilicata
2016-2018
Institute of Food Science
2015-2018
University of Cambridge
2018
Abstract Copper (Cu) is a vitally important micronutrient, whose balance between essential and toxic levels requires tightly regulated network of proteins. Dysfunction in key components this leads to the disruption Cu homeostasis, resulting fatal disorders such as Wilson disease, which caused by mutations hepatic efflux transporter ATP7B. Unfortunately, molecular targets for normalizing homeostasis disease remain poorly understood. Here, using genome-wide screening, we identified cellular...
Abstract Background Despite decades on developing dedicated Web tools, it is still difficult to predict correctly the changes of thermodynamic stability proteins caused by mutations. Here, we assessed reliability five recently developed in order evaluate progresses field. Results The results show that, although there are improvements field, predictors far from ideal. Prevailing problems include bias towards destabilizing mutations, and, general, unreliable when mutation causes a ΔΔG within...
ABSTRACT Whole-body energy expenditure, as well glucose and lipid metabolism, are regulated by skeletal muscles, which account for 40-50% of human body mass. Peroxisomes dynamic organelles that play a crucial role in metabolism clearance reactive oxygen species, however their muscles remains poorly understood. To clarify this issue, we generated muscle-specific transgenic mouse line with peroxisome import deficiency resulting from deletion peroxisomal biogenesis factor 5 (Pex5). Pex5...
Endosomes have emerged as major signaling hubs where different internalized ligand-receptor complexes are integrated and the outcome of pathways organized to regulate strength specificity signal transduction events. Ezrin, a membrane-actin linker that assembles coordinates macromolecular at membranes, has recently an important regulator lysosomal function. Here, we report endosomal-localized EGFR/Ezrin complex interacts with triggers inhibition Tuberous Sclerosis Complex (TSC complex) in...
Endosomes have emerged as major signaling hubs where different internalized ligand–receptor complexes are integrated and the outcome of pathways organized to regulate strength specificity signal transduction events. Ezrin, a membrane–actin linker that assembles coordinates macromolecular at membranes, has recently an important regulator lysosomal function. Here, we report endosomal-localized EGFR/Ezrin complex interacts with triggers inhibition Tuberous Sclerosis Complex (TSC complex) in...
Non-coding RNA transcripts originating from Ultraconserved Regions (UCRs) have tissue-specific expression and play relevant roles in the pathophysiology of multiple cancer types. Among them, we recently identified characterized ultra-conserved-transcript-8+ (uc.8+), whose levels correlate with grading staging bladder cancer. Here, to validate uc.8+ as a potential biomarker cancer, assessed its subcellular localization by using tissue microarray on 73 human specimens. We quantified in-situ...
Mass spectrometry is a widely applied technology with strong impact in the proteomics field. MALDI-TOF combined mass many applications characterizing biological samples from different sources, such as identification of cancer biomarkers, detection food frauds, doping substances athletes’ fluids, and so on. The massive quantity data, form spectra, are often biased altered by sources noise. Therefore, extracting most relevant features that characterize challenging requires combining several...
Abstract Endosomes have emerged as major signaling hubs where different internalized ligand-receptor complexes are integrated and the outcome of pathways organized to regulate strength specificity signal transduction events. Ezrin, a membrane-actin linker that assembles coordinates macromolecular at membranes, has recently an important regulator lysosomal function. Here, we report endosomal-localized EGFR/Ezrin complex interacts with triggers inhibition Tuberous Sclerosis Complex (TSC...
Abstract Summary ADViSELipidomics is a novel Shiny app for preprocessing, analyzing and visualizing lipidomics data. It handles the outputs from LipidSearch LIQUID lipid identification quantification data Metabolomics Workbench. extracts information by parsing species (using LIPID MAPS classification) and, together with available on samples, performs several exploratory statistical analyses. When experiment includes internal standards, can normalize matrix, providing normalized concentration...
Coeliac disease (CD) is a complex, multifactorial pathology caused by different factors, such as nutrition, immunological response and genetic factors. Many autoimmune diseases are comorbidities for CD, comprehensive integrated analysis with bioinformatics approaches can help in evaluating the interconnections among all selected pathologies. We first performed detailed survey of gene expression data available public repositories on CD less commonly considered comorbidities. Then we developed...
Endosomes have emerged as major signaling hubs where different internalized ligand-receptor complexes are integrated and the outcome of pathways organized to regulate strength specificity signal transduction events. Ezrin, a membrane-actin linker that assembles coordinates macromolecular at membranes, has recently an important regulator lysosomal function. Here, we report endosomal-localized EGFR/Ezrin complex interacts with triggers inhibition Tuberous Sclerosis Complex (TSC complex) in...
Endosomes have emerged as major signaling hubs where different internalized ligand-receptor complexes are integrated and the outcome of pathways organized to regulate strength specificity signal transduction events. Ezrin, a membrane-actin linker that assembles coordinates macromolecular at membranes, has recently an important regulator lysosomal function. Here, we report endosomal-localized EGFR/Ezrin complex interacts with triggers inhibition Tuberous Sclerosis Complex (TSC) in response...
Proteins are characterized by several typologies of features (structural, geometrical, energy). Most these expected to be similar within a protein family. We interested detect which can identify proteins that belong family, as well define the boundaries among families. Some redundant: they could generate noise in identifying variables essential fingerprint and, consequently, if related or not function defined an original approach analyze for defining their relationships and peculiarities A...
Introduction Computational reproducibility refers to the possibility of reconstructing all steps a workflow that connects raw data, processed data and results: it is fundamental issue in omic studies because complex high-dimensional nature involved data. The analysis omics needs exploit multi-step workflows including pre-processing, elaboration, statistical validation, interpretation presentation. Although some platforms are able ensure computational for different studies, they do not...
Clinical bioinformatics, translational bioinformatics and personalised medicine are connected by the common task of analysing integrating clinical data results, in order to find important biomarkers related pathologies facilitate their prediction, diagnosis treatment. New technologies provides possibility have more available online databases. This can be reused for studying complex disease from novel point views. work show how it is possible considering microarray coeliac some its...