A5011654841- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Attention Deficit Hyperactivity Disorder
- Monoclonal and Polyclonal Antibodies Research
- Nanoparticle-Based Drug Delivery
- Infant Development and Preterm Care
- Metabolism and Genetic Disorders
- Autism Spectrum Disorder Research
- Diet and metabolism studies
- CRISPR and Genetic Engineering
- Cerebral Palsy and Movement Disorders
- Neonatal and fetal brain pathology
- Vascular Malformations Diagnosis and Treatment
- Protein Interaction Studies and Fluorescence Analysis
- Tracheal and airway disorders
- Vascular Anomalies and Treatments
- Nursing care and research
- Soft tissue tumors and treatment
- Synthesis of Tetrazole Derivatives
- Social Skills and Education
- Amyotrophic Lateral Sclerosis Research
- Neurofibromatosis and Schwannoma Cases
- Dendrimers and Hyperbranched Polymers
- Cancer, Hypoxia, and Metabolism
University of Trieste
2021-2024
Unit of Functional and Adaptive Biology
2018-2024
Université Paris Cité
2018-2024
Centre National de la Recherche Scientifique
2018-2024
Hospital Sant Joan de Déu Barcelona
2010-2024
Sorbonne Paris Cité
2018
Centro Hospitalario Pereira Rossell
2006-2007
Two clinically approved anticancer drugs targeting BRAF in melanoma patients - dabrafenib (DAB) and vemurafenib (VEM) have been successfully encapsulated into nanomicelles formed upon self-assembly of an amphiphilic dendrimer AD based on two C18 aliphatic chains a G2 PAMAM head. The process resulted the formation well-defined (∼10 nm) core-shell (NMs) with excellent encapsulation efficiency (∼70% for DAB ∼60% VEM) good drug loading capacity (∼27% ∼24% VEM, respectively). Dynamic light...
The translocator protein TSPO is an evolutionary conserved mitochondrial overexpressed in various contexts of neurodegeneration. Friedreich Ataxia (FA) a neurodegenerative disease due to GAA expansions the FXN gene leading decreased expression frataxin, involved biosynthesis iron-sulfur clusters. We previously reported that Tspo was Drosophila model this generated by CRISPR/Cas9 insertion approximately 200 intron fh, fly frataxin gene. Here, we describe new FA with 42 repeats, called...
Drug binding to human serum albumin (HSA) significantly affects in vivo drug transport and biological activity. To gain insight into the mechanism of two B-Raf tyrosine kinase inhibitors dabrafenib vemurafenib HSA, this work, we adopted a combined strategy based on fluorescence spectroscopy, isothermal titration calorimetry (ITC), circular dichroism (CD), molecular simulations. Both anticancer drugs are found bind spontaneously with 1:1 stoichiometry within same pocket, located Sudlow's site...
Background: Although many studies analyse gender differences in the clinical expression of Attention Deficit Hyperactivity Disorder (ADHD) and prevalence show that girls with ADHD are underdiagnosed, there no instruments sensitive to detection ADHD. Objective: The objective this study is develop a self-report early instrument for boys aged 7 16, which includes perspective Methods: development scale items comprise it were created from thematic analysis its evaluation children, based on...
ABSTRACT Friedreich's ataxia (FA) is caused by reduced levels of frataxin, a highly conserved mitochondrial protein. There currently no effective treatment for this disease, which characterized progressive neurodegeneration and cardiomyopathy, the latter being most common cause death in patients. We previously developed Drosophila melanogaster cardiac model FA, fly frataxin inactivated specifically heart, leading to heart dilatation impaired systolic function. Methylene Blue (MB) was...
Friedreich ataxia (FA) is caused by GAA repeat expansions in the first intron of FXN, gene encoding frataxin, which results decreased expression. Thanks to high degree frataxin conservation, Drosophila melanogaster fruitfly appears as an adequate animal model study this disease and evaluate therapeutic interventions. Here, we generated a FA with CRISPR/Cas9 insertion approximately 200 fly fh. These flies exhibit developmental delay lethality associated We were able bypass preadult using...
Filamins are large proteins with actin binding properties. Mutations in FLNC, one of the three filamin genes humans, have recently been implicated dominant cardiomyopathies, but underlying mechanisms not well understood. Here, we aimed to use Drosophila melanogaster as a new vivo model study these diseases. First, show that adult-specific cardiac RNAi-induced depletion Filamin (dFil) induced dilatation, impaired systolic function and sarcomeric alterations, highlighting its requirement for...
Background: Although many studies analyse gender differences in the clinical expression of Attention-Deficit Hyperactivity Disorder (ADHD) and prevalence show that girls with ADHD are underdiagnosed, there no instruments sensitive to detection ADHD. Objective: The objective this study is develop a self-report early instrument for boys aged 7 16, which includes perspective Methods: scale was developed items comprised it were created from thematic analysis its evaluation children based on...
Since its first description at the beginning of 19th century, greater awareness this disorder has been achieved, becoming nowadays a recognized but sometimes underdiagnosed cause ischemic stroke in childhood. AIM. To describe population children with cerebral venous thrombosis, analyzing clinical presentation, risk factors, treatment and evolution.A descriptive, retrospective longitudinal review from 0 to 17 years age diagnosed sinovenous thrombosis was conducted, during period time between...
Cranio-cervical arterial dissections are a recognized cause of ischemic stroke in childhood, with an approximate incidence 0.4 to 20%. AIM. To describe population children cranio-cervical dissections, analyzing clinical presentation, risk factors, angiographic findings, evolution and treatment.A descriptive, retrospective, longitudinal collaborative review (Sant Joan de Deu Pereira Rossell Children's Hospital), one month 17 years old age was conducted, during the period time between 2000...
Introducción: El trastorno por déficit atencional e hiperactividad (TDAH) constituye uno de los trastornos más frecuentes del neurodesarrollo, con una prevalencia estimada a nivel mundial aproximadamente el 5% [1,2]. Hasta hace pocos años, las opciones farmacológicas utilizadas en España para tratamiento TDAH estaban circunscritas básicamente al metilfenidato sus diferentes presentaciones (MFD), y la Atomoxetina (ATX). 
 Desde año 2014 disponemos nuestro arsenal terapéutico dimesilato...