Sımona Baldassari
A5012609181- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Pluripotent Stem Cells Research
- Cellular transport and secretion
- RNA regulation and disease
- RNA Research and Splicing
- Genetic Syndromes and Imprinting
- Connexins and lens biology
- Ion channel regulation and function
- Neuroscience and Neural Engineering
- Pancreatic function and diabetes
- CRISPR and Genetic Engineering
- Genetic Neurodegenerative Diseases
- Connective tissue disorders research
- Moyamoya disease diagnosis and treatment
- Fetal and Pediatric Neurological Disorders
- Genetic and Kidney Cyst Diseases
- Epigenetics and DNA Methylation
- Epilepsy research and treatment
- 3D Printing in Biomedical Research
- RNA modifications and cancer
- Adenosine and Purinergic Signaling
- Cystic Fibrosis Research Advances
- Neuroscience and Neuropharmacology Research
- Muscle Physiology and Disorders
University of Genoa
2012-2025
Istituto Giannina Gaslini
2013-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2019-2025
Cognitive Research (United States)
2022
Denver School of Nursing
2021-2022
Triangle
2021-2022
Indianapolis Zoo
2021-2022
Gainesville Obstetrics & Gynecology
2021-2022
Committee on Publication Ethics
2022
Institute of Public Affairs
2021
Abstract AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca 2+ -impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients intellectual disability (ID) neurodevelopmental...
See Lerche (doi:10.1093/brain/awy073) for a scientific commentary on this article.Proline-rich transmembrane protein 2 (PRRT2) is the causative gene heterogeneous group of familial paroxysmal neurological disorders that include seizures with onset in first year life (benign infantile seizures), kinesigenic dyskinesia or combination both. Most PRRT2 mutations are loss-of-function leading to haploinsufficiency and 80% patients carry same frameshift mutation (c.649dupC; p.Arg217Profs*8), which...
Clinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary severity outcome, the genotypic spectrum is diverse. We aim to trace neurodevelopmental trajectories individuals with STXBP1-DEE dissect relationship between neurodevelopment epilepsy.Retrospective standardized clinical data were collected through international collaboration. A composite score system compared STXBP1-DEE.Forty-eight patients de novo variants a history of epilepsy included (age range at...
Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in NF1 and characterized heterogeneous phenotypic presentation. Relevant genotype–phenotype correlations have recently emerged, but only few pertinent studies are available. We retrospectively reviewed clinical, instrumental, data from cohort of 583 individuals meeting at least diagnostic National Institutes Health (NIH) criterion for NF1. Of these, 365 subjects fulfilled ≥2 NIH criteria, including...
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related developmental phenotypes that can model in zebrafish. The patient phenotypic spectrum includes delay/intellectual disability, hypotonia, distinct craniofacial features variable presence brain, renal, cardiac musculoskeletal...
Infiltration of immune cells and chronic inflammation substantially affect skeletal cardiac muscle degeneration in Duchenne muscular dystrophy. In the system, extracellular adenosine triphosphate (ATP) released by dying is sensed as a danger associated molecular pattern through P2 purinergic receptors. Specifically, P2X7 subtype has prominent role regulating system physiology contributes to inflammasome activation also cells. Here, we show that vivo blockade ATP/P2X signaling pathway...
Mutations in the WWOX gene cause a broad range of ultra-rare neurodevelopmental and brain degenerative disorders, associated with high likelihood premature death animal models as well humans. The encoded Wwox protein is WW domain-containing oxidoreductase that participates crucial biological processes including tumor suppression, cell growth/differentiation regulation steroid metabolism, while its role neural development less understood. We analyzed exomes family affected multiple pre-...
CAPRIN1 gene encodes a RNA-binding protein, abundant in the brain where it plays crucial role, regulating transport and translation of mRNAs synaptic proteins.CAPRIN1 haploinsufficiency causes neurodevelopmental disorder characterized by language impairment/speech delay, intellectual disability, attention deficit, hyperactivity disorder, autism spectrum disorder. To understand pathogenesis this view future treatment, we generated human induced pluripotent stem cells (iPSCs) from patient...
The Rab family of guanosine triphosphatases (GTPases) includes key regulators intracellular transport and membrane trafficking targeting specific steps in exocytic, endocytic, recycling pathways. DENND5B (Rab6-interacting Protein 1B-like protein, R6IP1B) is the longest isoform DENND5, an evolutionarily conserved DENN domain-containing guanine nucleotide exchange factor (GEF) that highly expressed brain. Through exome sequencing international matchmaking platforms, we identified five de novo...
Cerebellar hypoplasia and dysplasia encompass a group of clinically genetically heterogeneous disorders frequently associated with neurodevelopmental impairment. The Neuron Navigator 2 (NAV2) gene (MIM: 607,026) encodes member the protein family, widely expressed within central nervous system (CNS), particularly abundant in developing cerebellum. Evidence across different species supports pivotal function NAV2 cytoskeletal dynamics neurite outgrowth. Specifically, deficiency Nav2 mice leads...
"Hypomyelination and Congenital Cataract", HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract diffuse cerebral peripheral hypomyelination. caused deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the identification cell types expressing unknown function can contribute to define physiological context in which molecule explicating its function, we analyzed pattern Hyccin expression central nervous system (CNS PNS)....
To describe the clinical and genetic findings in a cohort of individuals with bathing epilepsy, rare form reflex epilepsy.We investigated by Sanger targeted resequencing SYN1 gene 12 from 10 different families presenting seizures triggered primarily or showering. An additional hot-water epilepsy were also screened.In all we identified 8 distinct pathogenic likely variants 2 unknown significance SYN1, 9 which are novel. Conversely, none displayed variants. In mutated individuals, typically...
Background: Cystic Fibrosis (CF) is a genetic disorder affecting around 1 in every 3000 newborns. In the most common mutation, F508del, defective anion channel, CFTR, prevented from reaching plasma membrane (PM) by quality check control of cell. Little known about how CFTR pharmacological rescue impacts cell proteome. Methods: We used high-resolution mass spectrometry, differential ultracentrifugation, machine learning and bioinformatics to investigate both changes expression localization...
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in NF1 gene, coding for neurofibromin 1. can be associated with Moyamoya disease (MMD), and this association, typical of paediatric patients, referred to as syndrome (MMS). MMD cerebral arteriopathy characterized the occlusion intracranial arteries collateral vessel formation, which increase risk ischemic hemorrhagic events. RNF213 gene have been MMD, so we investigated whether rare variants could act genetic...
Human-induced pluripotent stem cells (hiPSCs) represent one of the main and powerful tools for in vitro modeling neurological diseases. Standard hiPSC-based protocols make use animal-derived feeder systems to better support neuronal differentiation process. Despite their efficiency, such may not be appropriate dissect specific properties or avoid interspecies contaminations, hindering future translation into clinical drug discovery approaches. In this work, we focused on optimization a...
Elastin microfibril interface-located proteins (EMILINs) are extracellular matrix glycoproteins implicated in elastogenesis and cell proliferation. Recently, a missense mutation the EMILIN1 gene has been associated with autosomal dominant connective tissue disorder motor-sensory neuropathy single family. We identified by whole exome sequencing novel heterozygous c.748C>T [p.R250C] located coiled coil forming region of protein, four affected members an family presenting distal motor...