Francesco Petrizzelli

Francesco Petrizzelli
IRCCS Ospedale Casa Sollievo della Sofferenza | Opera di Padre Pio · Bioinformatics Unit

Doctor of Philosophy

About

15
Publications
851
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
44
Citations
Additional affiliations
November 2018 - present
IRCCS Ospedale Casa Sollievo della Sofferenza
Position
  • PhD Student
Education
October 2015 - May 2018
University of Rome Tor Vergata
Field of study
  • Bioinformatics

Publications

Publications (15)
Article
Motivation The control of the diffusion of diseases is a critical subject of a broad research area, which involves both clinical and political aspects. It makes wide use of computational tools, such as ordinary differential equations, stochastic simulation frameworks and graph theory, and interaction data, from molecular to social granularity level...
Article
Full-text available
The physiology and behavior of living organisms are featured by time-related variations driven by molecular clockworks that arose during evolution stochastically and heterogeneously. Over the years, several high-throughput experiments were performed to evaluate time-dependent gene expression in different cell types across several species and experi...
Article
KDM6A is the disease causative gene of type 2 Kabuki Syndrome, a rare multisystem disease; it is also a known cancer driver gene, with multiple somatic mutations found in a few cancer types. In this study, we looked at eleven missense variants in lung squamous cell carcinoma, one of the most common lung cancer subtypes, to see how they affect the K...
Article
Full-text available
The primary cilium is a non-motile sensory organelle that extends from the surface of most vertebrate cells and transduces signals regulating proliferation, differentiation, and migration. Primary cilia dysfunctions have been observed in cancer and in a group of heterogeneous disorders called ciliopathies, characterized by renal and liver cysts, sk...
Article
Full-text available
The mitigation of an infectious disease spreading has recently gained considerable attention from the research community. It may be obtained by adopting sanitary measurements (e.g., vaccination, wearing masks), social rules (e.g., social distancing), together with an extensive vaccination campaign. Vaccination is currently the primary way for mitig...
Preprint
Full-text available
The mitigation of an infectious disease spreading has recently gained considerable attention from the research community. It may be obtained by adopting sanitary measurements (e.g., vaccination, wearing masks), social rules (e.g., social distancing), together with an extensive vaccination campaign. Vaccination is currently the primary way for mitig...
Preprint
Vaccination is currently the primary way for mitigating the COVID-19 outbreak without severe lockdown. Despite its importance, the available number of vaccines worldwide is insufficient, and the production rates are hard to be increased in a short time. Therefore, vaccination needs to follow strict prioritization criteria. In this regard, almost al...
Article
Hundreds of human proteins were found to establish transient interactions with rather degenerated consensus DNA sequences or motifs. Identifying these motifs and the genomic sites where interactions occur represent one of the most challenging research goals in modern molecular biology and bioinformatics. The last twenty years witnessed an explosion...
Article
Full-text available
Background: Gene expression in eukaryotic cells can be governed by histone variants, which replace replication-coupled histones, conferring unique chromatin properties. MacroH2A1 is a histone H2A variant containing a domain highly similar to H2A and a large non-histone (macro) domain. MacroH2A1, in turn, is present in two alternatively exon-spliced...
Article
Introduction: Brachydactyly is a bone development abnormality presenting with variable phenotypes and different transmission patterns. Mutations in GDF5 (Growth and Differentiation Factor 5, MIM *601146) account for a significant amount of cases. Here, we report on a three-generation family, where the proband and the grandfather have an isolated br...
Article
Full-text available
Numerous lines of evidence have shown that the interaction between the nuclear and mitochondrial genomes ensures the efficient functioning of the OXPHOS complexes, with substantial implications in bioenergetics, adaptation, and disease. Their interaction is a fascinating and complex trait of the eukaryotic cell that MitImpact explores with its thir...
Article
Full-text available
Background Some natural systems are big in size, complex, and often characterized by convoluted mechanisms of interaction, such as epistasis, pleiotropy, and trophism, which cannot be immediately ascribed to individual natural events or biological entities but that are often derived from group effects. However, the determination of important groups...
Article
Full-text available
Mutations in genes encoding for histone methylation proteins are associated with several developmental disorders. Among them, KDM6A is the disease causative gene of type 2 Kabuki Syndrome, a rare multisystem disease. While nonsense mutations and short insertions/deletions are known to trigger pathogenic mechanisms, the functional effects of missens...
Article
Full-text available
Background Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System (CNS) malformations. However, genetics underlying isolated forms is still poorly recognized. Here, we report on two female familial cases with partial ACC. The proband shows isolated partial ACC and a mild neurodevelopmental phenotype. A fetus from a previo...
Article
Full-text available
In several fields of research, molecular dynamics simulation techniques are exploited to evaluate the temporal motion of particles constituting water, ions, small molecules, macromolecules, or more complex systems over time. These techniques are considered difficult to setup, computationally demanding and require high specialization and scientific...

Network

Cited By

Projects

Projects (3)
Project
This project aims to simulate, explore, and analyze the recognition pathway of SARS-CoV-2 and ACE2, from the unbound to the final bound state, using pepSuMD, an advanced version of the Supervised Molecular Dynamics method. The particular and unprecedented potential of this method will allow us to trace the occurrence of multiple intermediate states that chronologically anticipate the experimental high-resolution bound macro-molecule and hence to assess their importance in the formation of the physical interaction interface. Amino acids forming critical bonds will be mutated in silico, and the binding efficacy of the Spike-ACE2 complex assessed for each mutant. The extent to which these amino acids will affect the interaction upon mutation will help design capable competitors for Spike interaction. This research will result in an atlas containing a list and description of the wild-type amino acid residues temporally involved in the COVID-19 infection process, together with all simulated mutants and their effects on the interaction interface.
Project
InCAS is a tool for the automated functional annotation of human Copy Number Variants using information about protein coding and protein non-coding genes and regulatory regions. Available at: http://incas.css-mendel.it
Project
MitImpact is a collection of pre-computed pathogenicity predictions for all nucleotide changes that cause non-synonymous substitutions in human mitochondrial protein coding genes. It is freely available at: http://mitimpact.css-mendel.it