A5073628184- RNA Research and Splicing
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Genetics and Neurodevelopmental Disorders
- Single-cell and spatial transcriptomics
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- interferon and immune responses
- Autism Spectrum Disorder Research
- RNA regulation and disease
- Chromatin Remodeling and Cancer
- Cell Image Analysis Techniques
University of Milan
2024-2025
Human Technopole
2024-2025
European Institute of Oncology
2022-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2023
Massachusetts Institute of Technology
2023
Sapienza University of Rome
2020-2022
Germline mutations of YY1 cause Gabriele-de Vries syndrome (GADEVS), a neurodevelopmental disorder featuring intellectual disability and wide range systemic manifestations. To dissect the cellular molecular mechanisms underlying GADEVS, we combined large-scale imaging, single-cell multiomics gene regulatory network reconstruction in 2D 3D patient-derived physiopathologically relevant cell lineages. haploinsufficiency causes pervasive alteration type specific transcriptional networks,...
Mutations in ADNP (Activity-Dependent Neuroprotective Protein) are among the most frequent monogenic causes of autism spectrum disorder (ASD) and lead to Helsmoortel-Van der Aa syndrome (HVDAS). Yet how dysfunction leads HVDAS is unclear. We employed patient-derived induced pluripotent stem cells, cortical organoids KO human neural cells (hNSCs) clarify cellular molecular mechanism onset. purified an ADNP-KDM1A-GTF2I (AKG) protein complex from hNSCs show that it targets transposable elements...
Abstract Trimethylguanosine synthase 1 (TGS1) is a highly conserved enzyme that converts the 5′-monomethylguanosine cap of small nuclear RNAs (snRNAs) to trimethylguanosine cap. Here, we show loss TGS1 in Caenorhabditis elegans, Drosophila melanogaster and Danio rerio results neurological phenotypes similar those caused by survival motor neuron (SMN) deficiency. Importantly, expression human ameliorates SMN-dependent both flies worms, revealing can partly counteract effects SMN HeLa cells...
Germline mutations of YY1 cause Gabriele-de Vries syndrome (GADEVS), a neurodevelopmental disorder featuring intellectual disability and wide range systemic manifestations. To dissect the cellular molecular mechanisms underlying GADEVS, we combined large-scale imaging, single-cell multiomics gene regulatory network reconstruction in 2D 3D patient-derived physiopathologically relevant cell lineages. haploinsufficiency causes pervasive alteration type specific transcriptional networks,...
Abstract Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox ( ADNP ) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these are situated last exon and we previously demonstrated escape from nonsense-mediated decay by detecting mutant mRNA patient blood. In this study, wild-type mutants investigated at protein level therefore optimal detection is required. Detection means western blotting has been ambiguous with reported antibodies resulting...
ABSTRACT Trimethylguanosine synthase 1 (TGS1) is a highly conserved enzyme that converts the 5’ mono-methylguanosine cap of snRNAs to trimethylguanosine cap. Here, we show loss TGS1 in C. elegans, D. melanogaster and rerio results neurological phenotypes similar those caused by Survival Motor Neuron (SMN) deficiency. Importantly, expression human ameliorates SMN -dependent both flies worms, revealing can partly counteract effects HeLa cells leads accumulation immature U2 U4atac with long 3’...
ABSTRACT Many neurodevelopmental disorders, including autism, are caused by de novo mutations, that might arise as early in the parental germline, during embryonic, fetal development, or late post-natal aging. Intra-tissue mutation-load variations could impact clinical presentation. One of most common causes autism is mutations ADNP . We developed an ultra-sensitive, highly-quantitative droplet digital PCR assay to determine mutation levels patient tissues, blood, teeth, hair, and 24...
Abstract Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox ( ADNP ) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these are situated last exon and we previously demonstrated escape from nonsense-mediated decay by detecting mutant mRNA patient blood. In this study, wild-type mutants investigated at protein level therefore optimal detection is required. Detection means western blotting has been ambiguous with reported antibodies resulting...