A5051972725- Neuroscience and Neuropharmacology Research
- Ion channel regulation and function
- Epilepsy research and treatment
- Nicotinic Acetylcholine Receptors Study
- Genetics and Neurodevelopmental Disorders
- Sleep and Wakefulness Research
- Autism Spectrum Disorder Research
- Parkinson's Disease Mechanisms and Treatments
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- Alzheimer's disease research and treatments
- Photoreceptor and optogenetics research
- Cardiac electrophysiology and arrhythmias
- Restless Legs Syndrome Research
- Metabolism and Genetic Disorders
- Memory and Neural Mechanisms
- Prenatal Screening and Diagnostics
- Cancer Cells and Metastasis
- Pharmacological Effects and Toxicity Studies
- Folate and B Vitamins Research
- Genomics and Rare Diseases
- Berberine and alkaloids research
- Ion Transport and Channel Regulation
- Connective tissue disorders research
- Genetic Syndromes and Imprinting
University of Milano-Bicocca
2015-2024
Inserm
2014
Sorbonne Université
2014
University of Geneva
2014
Ludwig-Maximilians-Universität München
2011
University of Milan
2002-2005
To study the prevalence of DEPDC5 mutations in a series 30 small European families with phenotype compatible autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).Thirty unrelated referred ADNFLE were recruited France, Italy, Germany, Belgium, and Norway. Whole-exome sequencing was performed 10 probands direct coding sequence 20 probands. Testing for nonsense-mediated messenger RNA decay (NMD) lymphoblastic cells.Exome revealed splice acceptor mutation (c.2355-2A>G) proband German...
Epigenetic modifications have been implicated in a number of complex diseases as well being hallmark organismal aging. Several reports indicated an involvement these changes Alzheimer’s disease (AD) risk and progression, most likely contributing to the dysregulation AD-related gene expression measured by DNA methylation studies. Given that is tissue-specific AD brain disorder, limitation studies ability identify clinically useful biomarkers proxy tissue, reflective tissue interest, would be...
Mutations of voltage-gated Na(+) channels are the most common known cause genetically determined epilepsy; Na(v)1.1 (SCN1A) is frequent target. They can both mild and severe forms, also in patients harboring same mutation. We have recently characterized a family with extreme phenotypes first epileptogenic folding-defective channel mutant (Na(v)1.1-M1841T), whose loss function attenuated by interactions associated proteins drugs. hypothesized that vivo variability may modulate functional...
Abstract Nocturnal frontal lobe epilepsy up to now has been considered a channelopathy caused by mutations in the α 4 and β 2 subunits of neuronal nicotinic acetylcholine receptor. However, these account for only minority patients, existence at least new locus disease demonstrated. In one Italian nocturnal family, we identified two putative loci on chromosomes 3 8, where several candidate genes are mapped. particular, chromosome corticotropin‐releasing hormone gene ( CRH ) appears be good...
Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel reported cases affected by Andersen-Tawil syndrome while gain-of-function same cause short QT3 syndrome. Recently, a missense mutation Kir2.1, as well Kir4.1, were be involved autism spectrum disorders (ASDs) suggesting role of these diseases and introducing idea existence K+ ASDs. Here, we report identification an...
Mutations in genes coding for subunits of the neuronal nicotinic acetylcholine receptor (nAChR) have been involved familial sleep-related hypermotor epilepsy (also named autosomal dominant nocturnal frontal lobe epilepsy, ADNFLE). Most these mutations reside CHRNA4 and CHRNB2 genes, α4 β2 nAChR subunits, respectively. Two with contrasting functional effects were also identified CHRNA2 gene α2 subunit. Here, we report third mutation CHRNA2, found a patient showing ADNFLE. The was examined by...
Nocturnal frontal lobe epilepsy has been historically considered a channelopathy caused by mutations in subunits of the neuronal nicotinic acetylcholine receptor or recently reported potassium channel. However, these account for only minority patients, and existence at least new locus disease demonstrated. In 2005, we detected two nucleotide variations promoter CRH gene coding corticotropin releasing hormone 7 patients. These cosegregated with were demonstrated to alter cellular levels this...
Ischemia-reperfusion injury (IRI) and oxidative stress still limit the survival of cells organs in xenotransplantation models. Ectonucleotidases play an important role inflammation IRI transplantation settings. We tested potential protective effects derived by co-expression two main vascular ectonucleotidases, ecto-5'-nucleotidase (E5NT) ecto nucleoside triphosphate diphosphohydrolase 1 (ENTPD1), vitro model H2O2-induced cytotoxicity. produced a dicistronic plasmid (named pCX-DI-2A) for...