Massimo Zollo
A5005241979- Mechanisms of cancer metastasis
- Cancer Mechanisms and Therapy
- SARS-CoV-2 and COVID-19 Research
- Ferrocene Chemistry and Applications
- Glioma Diagnosis and Treatment
- MicroRNA in disease regulation
- COVID-19 Clinical Research Studies
- Hedgehog Signaling Pathway Studies
- Signaling Pathways in Disease
- Epigenetics and DNA Methylation
- Circular RNAs in diseases
- Cancer-related molecular mechanisms research
- Chromatin Remodeling and Cancer
- Peptidase Inhibition and Analysis
- RNA modifications and cancer
- SARS-CoV-2 detection and testing
- Genetics and Neurodevelopmental Disorders
- Genomics and Chromatin Dynamics
- Histone Deacetylase Inhibitors Research
- Synthesis and biological activity
- Pancreatic function and diabetes
- Neuroblastoma Research and Treatments
- RNA Research and Splicing
- Cancer Genomics and Diagnostics
- Trace Elements in Health
Federico II University Hospital
2009-2025
University of Naples Federico II
2015-2024
Ceinge Biotecnologie Avanzate (Italy)
2014-2024
European School of Molecular Medicine
2016-2024
Ospedale Pediatrico Giovanni XXIII
2024
University of Milan
2017-2020
Princess Margaret Cancer Centre
2016
Hospital for Sick Children
2016
SickKids Foundation
2016
British Columbia Children's Hospital
2016
Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and 4. Current medulloblastoma protocols stratify patients based on clinical features: patient age, metastatic stage, extent of resection, histologic variant. Stark prognostic genetic differences among the subgroups suggest that subgroup-specific biomarkers could improve prognostication.Molecular were identified from a discovery set 673 medulloblastomas 43 cities around world. Combined risk stratification models...
Posterior fossa ependymoma comprises two distinct molecular variants termed EPN_PFA and EPN_PFB that have a biology natural history. The therapeutic value of cytoreductive surgery radiation therapy for posterior after accounting subgroup is not known.Four independent nonoverlapping retrospective cohorts ependymomas (n = 820) were profiled using genome-wide methylation arrays. Risk stratification models designed based on known clinical newly described biomarkers identified by multivariable...
Background Through negative regulation of gene expression, microRNAs (miRNAs) can function in cancers as oncosuppressors, and they show altered expression various tumor types. Here we have investigated medulloblastoma tumors (MBs), which arise from an early impairment developmental processes the cerebellum, where Notch signaling is involved many cell-fate-determining stages. MBs occur bimodally, with peak incidence seen between 3–4 years 8–9 age, although it also adults. regulates a subset...
Background Through negative regulation of gene expression, microRNAs (miRNAs) can function as oncosuppressors in cancers, and themselves show altered expression various tumor types. Here, we have investigated medulloblastoma tumors (MBs), which arise from an early impairment developmental processes the cerebellum, where Notch signaling is involved many cell-fate-determining stages. regulates a subset MB cells that stem-cell-like properties promote growth. On basis this evidence, hypothesized...
Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT medulloblastoma have not been described. Hence, we sought describe these their impact a subgroup-specific manner. We analyzed by direct sequencing genotyping 466 medulloblastomas. The mutational distributions determined according subgroup affiliation, demographics, clinical,...
The established risk factors of coronavirus disease 2019 (COVID-19) are advanced age, male sex, and comorbidities, but they do not fully explain the wide spectrum manifestations. Genetic implicated in host antiviral response provide for novel insights into its pathogenesis.We performed an in-depth genetic analysis chromosome 21 exploiting genome-wide association study data, including 6,406 individuals hospitalized COVID-19 902,088 controls with European ancestry from Host Genetics...
The DHH superfamily human protein h-prune, a binding partner of the metastasis suppressor nm23-H1, is frequently overexpressed in metastatic cancers. From an evolutionary perspective, h-prune very close to eukaryotic exopolyphosphatases. Here, we show for first time that efficiently hydrolyzes short-chain polyphosphates (kcat 3−40 s−1), including inorganic tripoly- and tetrapolyphosphates nucleoside 5′-tetraphosphates. Long-chain (≥25 phosphate residues) are converted more slowly, whereas...
h-prune, which has been suggested to be involved in cell migration, was identified as a glycogen synthase kinase 3 (GSK-3)-binding protein. Treatment of cultured cells with GSK-3 inhibitors or small interfering RNA (siRNA) for and h-prune inhibited their motility. The activity required the interaction h-prune. localized focal adhesions, siRNA delayed disassembly paxillin. tyrosine phosphorylation adhesion (FAK) activation Rac were suppressed knocked-down cells. paxillin FAK Rac. Furthermore,...
PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran Italy with individuals affected by new autosomal recessive neurodevelopmental degenerative disorder which cardinal features include primary microcephaly profound global developmental delay. Our genetic studies identified biallelic mutations PRUNE1 as responsible. functional...
See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants ten unrelated patients with neurodevelopmental disorder characterized by variable degrees central peripheral involvement. Abnormal expression Nfasc155 is accompanied severe loss myelinated fibres.