Elisabetta Tabolacci

@unicatt.it

Catholic University of Rome
Department of Life Science and Public Health - Section of Genomic Medicine

Elisabetta Tabolacci


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https://researchid.co/elisabetta.tabolacci

RESEARCH INTERESTS

Intellectual disability, epigenetics, genetic syndromes
70

Scopus Publications

2341

Scholar Citations

26

Scholar h-index

35

Scholar i10-index

Scopus Publications

  • Subcellular photoprotection through precision nutraceuticals: Divergent actions of rutin and punicalagin on redox and mitochondrial homeostasis in human dermal fibroblasts
    Alessia Riente, Flavio Di Giacinto, Michele Maria De Giulio, Benedetta Niccolini, Elisabetta Tabolacci, Maria Elisabetta Clementi, Marco De Spirito, Giuseppe Maulucci
    Journal of Photochemistry and Photobiology B Biology, 2026
    Excessive ultraviolet A (UVA) exposure is a major environmental factor contributing to skin photoaging and oxidative damage. Identifying natural compounds that can counteract these effects is increasingly relevant for preventive and personalized healthcare. Precision nutrition uses diet-derived bioactives to modulate molecular pathways in defined cellular contexts. Polyphenols are promising for sustaining redox and metabolic balance under stress. This study examined the photoprotective actions of rutin (buckwheat, citrus peel) and punicalagin (pomegranate) in human dermal fibroblasts exposed to UVA radiation. Phasor-based fluorescence lifetime imaging microscopy (FLIM) quantified lipid peroxidation–related oxidative stress ( F ox ) and oxidative phosphorylation activity ( F oxphos ). Mitochondrial morphology was assessed via fission (Fis1) and fusion (MFN2) markers. Though UVA exposure tended to increase oxidative stress, the observed variation is not significant. Rutin provided superior antioxidant protection under UVA stress, substantially reducing F ox to 0.129 ± 0.02 with a near-significant trend, while punicalagin demonstrated stronger baseline antioxidant activity. Both compounds enhanced oxidative phosphorylation under stress: punicalagin increased F oxphos to 0.823 ± 0.02 ( p = 0.004 vs UVA) and rutin to 0.789 ± 0.02 ( p = 0.023 vs UVA). UVA disrupted mitochondrial networks, elevating fission and reducing fusion. Rutin reversed these effects, restoring fusion and reducing fission, whereas punicalagin provided partial recovery. In summary, rutin offered broader cytoprotection by mitigating oxidative stress and preserving mitochondrial integrity, while punicalagin mainly supported metabolic activity. These distinct responses highlight polyphenol-based nutraceuticals as precision tools for targeted skin photoprotection, suggesting their potential use in dietary or topical formulations to counteract everyday UVA exposure and photoaging.
  • NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders
    Beatrice Rosa, Elisabetta Tabolacci, Roberta Pietrobono, Eugenio Sangiorgi, Fiorella Gurrieri, Pietro Chiurazzi, Ludovico Luca Sicignano, Elena Verrecchia, Maurizio Genuardi, Donato Rigante, Raffaele Manna
    Genes, 2026
    Background: Dysregulation of the innate immune system is a key feature of autoinflammatory disorders, characterized by recurrent or chronic inflammation in the absence of high-titer autoantibodies and antigen-specific T cells. Among regulators of innate immunity, NLRP12 has emerged as an important modulator of inflammatory signaling pathways. As a member of the nucleotide-binding oligomerization domain-like receptor (NLR) family, NLRP12 negatively regulates nuclear factor (NF)-κB activity and contributes to immune homeostasis. However, the clinical significance of NLRP12 variants and their association with disease phenotypes remain incompletely understood. This study aims to summarize current knowledge on the molecular role of NLRP12 and its involvement in autoinflammatory manifestations. Methods: A narrative review of the literature on NLRP12’s molecular functions and role in autoinflammatory diseases was performed. In addition, a cohort of 20 patients with recurrent fevers carrying NLRP12 variants was analyzed from a clinical perspective, evaluating genetic findings and clinical features. Results: Available evidence indicates that NLRP12 regulates inflammatory signaling, particularly through modulation of NF-κB activity. Variants in the NLRP12 gene have been associated with a spectrum of autoinflammatory phenotypes, ranging from periodic fever syndromes to broader systemic inflammatory manifestations. Clinical evaluation of the cohort confirmed the heterogeneity of disease presentations among individuals carrying NLRP12 variants. Conclusions: NLRP12 plays an important role in the regulation of innate immune responses and may contribute to autoinflammatory phenotypes. Integrating molecular data with clinical observations may improve the understanding of NLRP12 variants and support more accurate diagnostic and therapeutic strategies.
  • Genetic Determinants of Primary Failure of Eruption: A Comprehensive Review of PTH1R Variants
    Benedetta Niccolini, Giulia Lauretti, Pietro Chiurazzi, Cristina Grippaudo, Elisabetta Tabolacci
    Genes, 2026
    Primary Failure of Eruption (PFE) is a disorder characterized by aberrant tooth eruption, in which one or more teeth fail to follow the physiological eruptive pathway and remain partially or completely embedded within the bone or soft tissues. Although the etiopathogenesis of PFE is not yet fully elucidated, several contributing factors have been identified, including genetic alterations, hormonal disturbances, and systemic conditions. An expanding body of evidence points to the centrality of genetic determinants in the etiopathogenesis of PFE, supporting its occurrence in both syndromic contexts and non-syndromic presentations. Non-syndromic forms are closely related to heterozygous variants in the Parathyroid Hormone 1 Receptor (PTH1R) gene, located on chromosome 3p21, which encodes a receptor essential for the regulation of bone and dental growth and development. In most cases, pathogenic variants result in a non-functional receptor. To date, a substantial number 50 PTH1R variants have been documented in individuals exhibiting a phenotype consistent with PFE, underscoring the central involvement of this gene in the disorder’s molecular basis. Advances in understanding the genetic contribution to PFE emphasize the need for early diagnosis, as timely identification of the condition can prevent secondary dental complications and reduce reliance in adulthood on invasive orthodontic or surgical interventions, including extractions, orthognathic surgery, and implant-supported rehabilitation. This review aims to provide a comprehensive analysis of the spectrum of PTH1R variants implicated in PFE, examining genotype–phenotype correlations and their implications for diagnostic strategies and clinical management.
  • Inflammatory bowel disease (IBD) is associated with increased intestinal extrachromosomal circular DNA: an emerging biomarker for IBD type and activity
    Valentina Petito, Daniela Gerovska, Antonia Piazzesi, Federica di Vincenzo, Alessandra Russo, Laura Turchini, Letizia Masi, Valeria Emoli, Elisabetta Tabolacci, Maria Cristina Giustiniani, Tommaso Mazza, Lucrezia Laterza, Alfredo Papa, Loris R Lopetuso, Lorenza Putignani, Antonio Gasbarrini, Marcos J Araúzo-Bravo, Franco Scaldaferri
    Journal of Crohn S and Colitis, 2026
    Background and Aims Inflammatory bowel disease (IBD) is a gastrointestinal, auto-inflammatory disease with a chronic relapsing and remitting course, whose diagnosis is based on several examinations assessing intestinal inflammation and clinical assessment. Furthermore, only 40%-60% of patients respond to therapy, making identification of reliable markers of disease or predictors of disease course and therapy response of great interest to the medical community. The existence of extrachromosomal circular DNA (eccDNA) is well established, and has become a promising biomarker for different types of cancer. Here, we investigate eccDNA in patients affected by IBD. Methods Intestinal biopsies were collected from patients and from healthy controls. Circular DNA was enriched, sequenced, identified with Circle Finder, and annotated with bedtools. Patients were then stratified based on disease type and activity. Results Intestinal tissue from IBD patients contained significantly higher levels of eccDNAs than tissue from healthy controls. eccDNA production also was significantly increased in patients with active ulcerative colitis compared to patients in remission. In Crohn’s disease, eccDNAs were more abundant than in healthy controls, though the difference between active and inactive Crohn’s disease was less defined. Furthermore, eccDNAs containing fragments from specific genes were consistently found in a large proportion of patients with IBD, while healthy controls presented with a more stochastic eccDNA pattern. Conclusions Here, we uncover an IBD-specific pattern of eccDNA production from intestinal biopsies. Furthermore, we have identified genic hotspots that characterize active disease. We propose that eccDNA containing specific gene fragments (eg, NRG1 and ZPMF2) could represent a promising new biomarker tool for patients with IBD.
  • A gap analysis integrating In vitro - Research in HDR interventional radiotherapy (Modern Brachytherapy): Challenges, limitations, and future directions
    Enrico Rosa, Benedetta Niccolini, Riccardo Di Santo, Bruno Fionda, Maria Vaccaro, Elisa Placidi, Elisabetta Tabolacci, Marco De Spirito, Monica Mangoni, Luca Tagliaferri, Gabriele Ciasca
    Applied Radiation and Isotopes, 2026
    • This is the first gap analysis dedicated to *in vitro* studies using HDR interventional radiotherapy (IRT, brachytherapy), identifying a significant lack of HDR-specific preclinical models. • All reviewed studies employed 2D monolayer cultures; no study integrated physiologically relevant 3D models such as spheroids or organoids. • Most studies focused on cytotoxicity and α/β ratio modeling, while immune-related endpoints, oxidative stress, and bystander effects remain underexplored. • Dosimetric inaccuracies due to non-standard platforms were frequently reported and corrected via Monte Carlo simulations, yet rarely integrated with biological data. • The analysis highlights the need for advanced experimental frameworks combining radiobiology, 3D dosimetry, and biomimetic models to enhance translational relevance of HDR-IRT research.
  • GAPO syndrome: a comprehensive examination and review of 105 clinical cases
    Clarissa Modafferi, Pino D’Ambrosio, Silvia Andaloro, Giulia Lauretti, Fulvia Antignani, Maurizio Pompili, Felice Giuliante, Marco Biolato, Benedetta Niccolini, Arcangelo Fargnoli, Francesco Bogliardi, Paola Concolino, Giuseppe Zampino, Angelo Minucci, Maurizio Genuardi, Elisabetta Tabolacci, Pietro Chiurazzi
    Journal of Medical Genetics, 2026
    Growth retardation, alopecia, pseudoanodontia and optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the ANTXR1 gene. While significant progress has been made in understanding its molecular basis, no systematic description of the clinical phenotype is available. We conducted a comprehensive review of 105 cases reported in the available literature since the first description of GAPO syndrome in 1947. We summarise here the current understanding of the clinical phenotype and the genetic basis of the condition. Our findings point out the multisystemic nature of GAPO syndrome, primarily featuring skeletal, dermatological and ophthalmological manifestations. The condition is caused by the biallelic loss-of-function of ANTXR1. Histological findings throughout the reported cases underscore the critical role of excessive extracellular matrix deposition in the pathogenesis of GAPO syndrome. The evidence gathered suggests ANTXR1 as an important regulator of extracellular matrix homeostasis. This study highlights the clinical and molecular spectrum of GAPO syndrome. Early recognition, multidisciplinary care and genetic counselling are essential for improving patient outcomes. Future studies should focus on targeted therapies addressing extracellular matrix dysregulation.
  • Permanent first molar eruption failure in children: leading signs for early diagnosis
    Cristina Grippaudo, Elisabetta Tabolacci, Marco Farronato, Pietro Chiurazzi, Sylvia A. Frazier-Bowers
    Progress in Orthodontics, 2025
    Background This cross-sectional observational study seeks to determine the clinical differences in eruption failure of permanent first molars presenting in cases of ankylosis, failure due to mechanical obstruction (MFE), and failure due to genetic causes (PFE). A total of 34 patients between 7 and 12 years old (mean ± SD: 9.3 ± 1.28 years), with anomalies in the eruption of the first permanent molars, were selected based on clinical observation, the evaluation of orthopanoramic radiographs, and intra- and extra-oral photographs. Genetic testing was also conducted to identify variants of the PTH1R gene in 27 patients with clinical signs of PFE. The familial nature of the condition was investigated through anamnesis of the first-degree relatives. Results Out of the 34 patients, 3 were diagnosed with PFE, confirmed by the presence of PTH1R variants. Twelve patients showed clinical signs suggestive of MFE diagnosis. The remaining 19 cases, in which no variants of the PTH1R gene were found, were considered cases of ankylosis. Roots in ankylosed teeth were located in the basal bone and often dilacerated. The reduction of vertical growth of the alveolar bone was present in both PFE and ankylosis cases, but teeth were nearer to the basal bone in ankylosis cases. Infraocclusion of deciduous teeth was present in PFE and MFE cases. Asymmetry due to bilaterally unbalanced eruption of the teeth was present in six cases with ankylosis. Bilateral affection was noticed in one PFE case and 6 MFE cases. A descriptive statistical analysis using Fisher’s exact test was employed to evaluate the significant association between variables. Conclusions The study highlighted some characteristic signs that help in early diagnosis of cases of PFE, MFE, and ankylosis. However, genetic testing remains necessary to understand the nature of the most dubious cases.
  • Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome
    Grace Farmiloe, Veronika Bejczy, Elisabetta Tabolacci, Rob Willemsen, Frank Jacobs
    Journal of Neurodevelopmental Disorders, 2025
    Background Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the expansion of a CGG repeat in the 5’UTR of the FMR1 (fragile X messenger ribonucleoprotein 1) gene. Healthy individuals possess a repeat 30–55 CGG units in length. Once the CGG repeat exceeds 200 copies it triggers methylation at the locus. This methylation covers the FMR1 promoter region and silences expression of the gene and the production of FMRP (fragile X messenger ribonucleoprotein). The loss of FMRP is responsible for a number of pathologies including neurodevelopmental delay and autism spectrum disorder. Methylation of the expanded repeat in the FMR1 locus is the causal factor for FXS, however it is not known why the expanded repeat triggers this epigenetic change or how exactly DNA methylation is established. Intriguingly, genetic engineering of expanded CGG repeats of over 300 copies in the FMR1 locus in mice remains unmethylated. Also in humans, in very rare cases, individuals can have an FMR1 CGG expansion > 200 copies but the locus remains unmethylated. These unmethylated full mutation (UFM) individuals give us a rare opportunity to investigate the mechanism of FMR1 promoter methylation. Methods Fibroblasts were obtained from a healthy control, an FXS patient and two unmethylated full expansion carriers. RNA was extracted and comparative transcriptomic analysis was performed on all samples. Whole genome sequencing was carried out on DNA from the two UFM carriers and the results analysed to investigate DNA variants that could explain the observed differences in gene expression. Results Our analyses focused on genes involved in epigenetic modification. We show that Tet methylcytosine dioxygenase 3 (TET3), a gene involved in DNA methylation, is significantly downregulated in UFM carriers compared to healthy controls or FXS patient derived cells. Genomic analyses reveal a number of rare variants present in the TET3 locus in UFM carriers when compared to the reference genome. However, no clear modifying TET3 variants were identified. Conclusion Our results suggest that TET3 is a candidate factor responsible for the lack of methylation of the expanded FMR1 locus. Further analyses are needed to further elucidate this relationship, however given its potential to directly interact with CGG repeats and its ambiguous role in 5-hydroxy-methylation of CG containing sequences, TET3 is a strong candidate for further exploration.
  • Polydatin Prevents UVA-Induced Damage in Human Dermal Fibroblasts by Maintaining Mitochondrial Integrity
    Benedetta Niccolini, Alessia Riente, Duaa Hatem, Patrizia Bottoni, Michela Pizzoferrato, Giuseppe Tringali, Elisabetta Tabolacci, Giuseppe Maulucci, Stefano Marini, Chiara Ciaccio, Maria Elisabetta Clementi
    Cells, 2025
    UVA radiation induces oxidative stress, mitochondrial dysfunction, and cell death in human dermal fibroblasts, contributing to skin aging and damage. In this study, we investigated the protective effects of polydatin, a natural polyphenol, against UVA-induced cell damage. Our results show that polydatin preserves cell viability and reduces intracellular reactive oxygen species (ROS) levels after UVA exposure. In addition, polydatin maintains mitochondrial integrity by preserving mitochondrial membrane potential and improving mitochondrial respiration. From a molecular perspective, polydatin regulates the expression of Nrf2, a key regulator of the cellular antioxidant response, thereby promoting cellular defense mechanisms. Additionally, polydatin attenuates UVA-induced mitochondrial fission, supporting a balanced mitochondrial dynamic profile. These results suggest that polydatin exerts a protective effect on UVA-irradiated fibroblasts, highlighting its potential for cosmetic and dermatological applications aimed at preventing photoaging and oxidative skin damage.
  • The role of sevoflurane exposure on systemic inflammation and neuroinflammation: a systematic review and meta-analysis of in vivo and in vitro studies
    Francesca Rapido, Valeria Di Franco, Elisabetta Tabolacci, Cinzia Dello Russo, Paola Aceto
    European Journal of Pharmacology, 2025
    Neuroinflammation induced by anaesthetics may negatively affect neurocognitive functions after surgery in humans. This systematic review and meta-analysis aimed to evaluate the impact of sevoflurane exposure on systemic inflammation and neuroinflammation and to assess alterations in behavioural/cognitive functions in experimental rodent models not exposed to surgery nor to other inflammatory stimuli. Databases were searched for in vivo and/or in vitro studies examining inflammation after sevoflurane exposure compared to control conditions. Inflammatory biomarkers, including interleukin (IL)-6, IL-1β, and tumor necrosis factor alfa (TNFα), at the peak time of production (primary outcomes) were investigated. The secondary outcome was to evaluate the presence of alterations in behavioural/cognitive tests. Subgroup analyses on young and adult rodents were performed for in vivo studies. Thirty-five in vivo and in vitro studies were selected. Results from meta-analyses demonstrated significant increases in the secretion peak of all inflammatory markers in vivo models. Significantly higher plasma peaks of IL-6 (SMD: 7.97, 95 % CI: 4.76-11.17), IL-1β (SMD: 5.71, 95 % CI: 1.88-9.55) and TNFα (SMD: 6.64, 95 % CI: 3.73-9.56) were found only in adult rodents exposed to sevoflurane. Similar findings were observed in brain tissue homogenates. Rodents exposed to sevoflurane exhibited significant alterations in behavioural/cognitive tests and significance persisted only in adult rodents. Sevoflurane exposure may trigger systemic inflammation and neuroinflammation in experimental rodent models with marked effects in adult rodents. Alterations in behavioural/cognitive tests suggest a potential role of sevoflurane in the development of postoperative cognitive disorders in the elderly, independently of surgery. Further research is needed in humans.
  • Genetic Aspects of Tooth Agenesis
    Clarissa Modafferi, Ilaria Tucci, Francesco Maria Bogliardi, Elena Gimondo, Pietro Chiurazzi, Elisabetta Tabolacci, Cristina Grippaudo
    Genes, 2025
  • Syndromic and Non-Syndromic Primary Failure of Tooth Eruption: A Genetic Overview
    Clarissa Modafferi, Elisabetta Tabolacci, Cristina Grippaudo, Pietro Chiurazzi
    Genes, 2025
  • Evidence for a Functional Link Between the Nrf2 Signalling Pathway and Cytoprotective Effect of S-Petasin in Human Retinal Pigment Epithelium Cells Exposed to Oxidative Stress
    Michela Pizzoferrato, Giacomo Lazzarino, Anna Brancato, Elisabetta Tabolacci, Maria Elisabetta Clementi, Giuseppe Tringali
    Antioxidants, 2025
  • Permanent First Molar Eruption Failure in Children: clinical management of three clinical scenarios
    C. Grippaudo, S. Dobson, E. Tabolacci, S. Sferra, G. Marzo, S. A. Frazier-Bowers
    European Journal of Paediatric Dentistry, 2025
  • Environmental maternal exposures and the risk of premature birth and intrauterine growth restriction: The Generation Gemelli study protocol of newborn exposome
    Leonardo Villani, Angelo Maria Pezzullo, Roberta Pastorino, Alessandra Maio, Francesca Stollagli, Chiara Tirone, Marta Barba, Angela Maria Cozzolino, Denise Pires Marafon, Martina Porcelli, Annamaria Sbordone, Maria Letizia Patti, Anthea Bottoni, Angela Paladini, Simona Fattore, Domenico Marco Romeo, Ornella Parolini, Wanda Lattanzi, Guido Rindi, Luca Tamagnone, Marco Marazza, Maurizio Genuardi, Elisabetta Tabolacci, Eugenio Maria Mercuri, Antonio Chiaretti, Tina Pasciuto, Maurizio Sanguinetti, Vincenzo Valentini, Giovanni Scambia, Walter Ricciardi, Giovanni Vento, Antonio Lanzone, Stefania Boccia
    Plos One, 2025
  • Role of Circulating X-Chromosome Inactivation and Xist as Biomarkers in Female Carriers of Fabry Disease
    Salvatore Rossi, Arcangelo Fargnoli, Daniele Di Natale, Gianmarco Dalla Zanna, Antonio Funcis, Federica Re, Vincenza Gragnaniello, Elena Verrecchia, Alberto Burlina, Elisabetta Tabolacci, Gabriella Silvestri
    International Journal of Translational Medicine, 2024
  • Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort (Journal of Neurology, (2024), 271, 8, (5478-5488), 10.1007/s00415-024-12506-x)
    Sara Satolli, Salvatore Rossi, Elisa Vegezzi, David Pellerin, Maria Laura Manca, Melissa Barghigiani, Carla Battisti, Giusi Bilancieri, Giorgia Bruno, Elena Capacci, Carlo Casali, Roberto Ceravolo, Sirio Cocozza, Stefano Cotti Piccinelli, Chiara Criscuolo, Matt C. Danzi, Rosa De Micco, Giuseppe De Michele, Marie-Josée Dicaire, Grazia Maria Igea Falcone, Roberto Fancellu, Yasmine Ferchichi, Camilla Ferrari, Alessandro Filla, Nicola Fini, Alessandra Govoni, Filomena Lo Vecchio, Alessandro Malandrini, Andrea Mignarri, Olimpia Musumeci, Claudia Nesti, Sabina Pappatà, Maria Teresa Pellecchia, Alessia Perna, Antonio Petrucci, Maria Grazia Pomponi, Roberta Ravenni, Ivana Ricca, Alessandra Rufa, Elisabetta Tabolacci, Alessandra Tessa, Alessandro Tessitore, Stephan Zuchner, Gabriella Silvestri, Andrea Cortese, Bernard Brais, Filippo M. Santorelli
    Journal of Neurology, 2024
  • New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort
    Clarissa Modafferi, Elisabetta Tabolacci, Filomena Lo Vecchio, Ilaria Cassano, Roberto Bertozzi, Arcangelo Fargnoli, Concetta Cafiero, Ettore Lo Cascio, Alessandro Arcovito, Cristina Grippaudo, Pietro Chiurazzi
    European Journal of Human Genetics, 2024
  • Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
    Sara Satolli, Salvatore Rossi, Elisa Vegezzi, David Pellerin, Maria Laura Manca, Melissa Barghigiani, Carla Battisti, Giusi Bilancieri, Giorgia Bruno, Elena Capacci, Carlo Casali, Roberto Ceravolo, Sirio Cocozza, Stefano Cotti Piccinelli, Chiara Criscuolo, Matt C. Danzi, Rosa De Micco, Giuseppe De Michele, Marie-Josée Dicaire, Grazia Maria Igea Falcone, Roberto Fancellu, Yasmine Ferchichi, Camilla Ferrari, Alessandro Filla, Nicola Fini, Alessandra Govoni, Filomena Lo Vecchio, Alessandro Malandrini, Andrea Mignarri, Olimpia Musumeci, Claudia Nesti, Sabina Pappatà, Maria Teresa Pellecchia, Alessia Perna, Antonio Petrucci, Maria Grazia Pomponi, Roberta Ravenni, Ivana Ricca, Alessandra Rufa, Elisabetta Tabolacci, Alessandra Tessa, Alessandro Tessitore, Stephan Zuchner, Gabriella Silvestri, Andrea Cortese, Bernard Brais, Filippo M. Santorelli
    Journal of Neurology, 2024
  • Remifentanil-induced hyperalgesia in healthy volunteers: A systematic review and meta-analysis of randomized controlled trials
    Cinzia Dello Russo, Valeria Di Franco, Elisabetta Tabolacci, Natalia Cappoli, Pierluigi Navarra, Liliana Sollazzi, Francesca Rapido, Paola Aceto
    Pain, 2024
  • Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders
    Martina Grandi, Chiara Galber, Cristina Gatto, Veronica Nobile, Cecilia Pucci, Ida Schaldemose Nielsen, Francesco Boldrin, Giovanni Neri, Pietro Chiurazzi, Giancarlo Solaini, Alessandra Baracca, Valentina Giorgio, Elisabetta Tabolacci
    International Journal of Molecular Sciences, 2024
  • The polyphenolic compound punicalagin protects skin fibroblasts from UVA radiation oxidative damage
    Giada Bianchetti, Patrizia Bottoni, Giuseppe Tringali, Giuseppe Maulucci, Elisabetta Tabolacci, Maria Elisabetta Clementi
    Current Research in Pharmacology and Drug Discovery, 2024
  • REMIFENTANIL DOES NOT AFFECT HUMAN MICROGLIAL IMMUNE ACTIVATION IN RESPONSE TO PRO-INFLAMMATORY CYTOKINES
    Cinzia Dello Russo, Natalia Cappoli, Elisabetta Tabolacci, Liliana Sollazzi, Pierluigi Navarra, et al.
    Excli Journal, 2023
  • Rutin Protects Fibroblasts from UVA Radiation through Stimulation of Nrf2 Pathway
    Elisabetta Tabolacci, Giuseppe Tringali, Veronica Nobile, Sara Duca, Michela Pizzoferrato, Patrizia Bottoni, Clementi Maria Elisabetta
    Antioxidants, 2023
  • Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals
    Giulia Cencelli, Laura Pacini, Anastasia De Luca, Ilenia Messia, Antonietta Gentile, Yunhee Kang, Veronica Nobile, Elisabetta Tabolacci, Peng Jin, Maria Giulia Farace, Claudia Bagni
    Cells, 2023
  • RADX Gene Variant May Predispose to Familial Asperger Syndrome
    Alessia Azzarà, Roberto Rumore, Fulvia Brugnoletti, Elisabetta Tabolacci, Irene Bottillo, Eugenio Sangiorgi, Fiorella Gurrieri
    Genes, 2023
  • Epigenetic causes of intellectual disability—the fragile X syndrome paradigm
    E. Tabolacci, G. Neri
    Neuropsychiatric Disorders and Epigenetics Second Edition, 2023
  • Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype
    Filomena Lo Vecchio, Elisabetta Tabolacci, Veronica Nobile, Maria Grazia Pomponi, Roberta Pietrobono, Giovanni Neri, Simona Amenta, Ettore Candida, Cristina Grippaudo, Ettore Lo Cascio, Alessia Vita, Federica Tiberio, Alessandro Arcovito, Wanda Lattanzi, Maurizio Genuardi, Pietro Chiurazzi
    Genes, 2022
  • Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?
    Elisabetta Tabolacci, Veronica Nobile, Cecilia Pucci, Pietro Chiurazzi
    International Journal of Molecular Sciences, 2022
  • Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
    Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono, Daniela Orteschi, Veronica Nobile, Cecilia Pucci, Elisa Musto, Marika Pane, Eugenio M. Mercuri, Giovanni Neri, Maurizio Genuardi, Pietro Chiurazzi, Marcella Zollino
    Genes, 2021
  • Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
    Elisabetta Tabolacci, Clelia Molinario, Giuseppe Marangi, Veronica Nobile, Vincenzo Arena, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Milena Tana, Simonetta Costa, Giovanni Vento, Maurizio Genuardi
    Clinical Genetics, 2021
  • Dna methylation, mechanisms of FMR1 inactivation and therapeutic perspectives for fragile X syndrome
    Veronica Nobile, Cecilia Pucci, Pietro Chiurazzi, Giovanni Neri, Elisabetta Tabolacci
    Biomolecules, 2021
  • Effects of remifentanil on human C20 microglial pro-inflammatory activation
    N. Cappoli, P. Aceto, E. Tabolacci, D. Mezzogori, L. Sollazzi, P. Navarra, C. Dello Russo
    European Review for Medical and Pharmacological Sciences, 2021
  • The emerging role of the BDNF-TrkB signaling pathway in the modulation of pain perception
    Natalia Cappoli, Elisabetta Tabolacci, Paola Aceto, Cinzia Dello Russo
    Journal of Neuroimmunology, 2020
  • Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
    Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono, Veronica Nobile, Gaetana Pennacchio, Fiorella Gurrieri, Giovanni Neri, Maurizio Genuardi, Pietro Chiurazzi
    European Journal of Human Genetics, 2020
  • DNA methylation in the diagnosis of monogenic diseases
    Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri, Cristiana Lo Nigro, Giuseppe Merla, Monica Miozzo, Silvia Russo, Eugenio Sangiorgi, Silvia M Sirchia, Gabriella Maria Squeo, Silvia Tabano, Elisabetta Tabolacci, Isabella Torrente, Maurizio Genuardi, Giovanni Neri, Andrea Riccio
    Genes, 2020
  • Reversion to normal of FMR1 expanded alleles: A rare event in two independent fragile X syndrome families
    Elisabetta Tabolacci, Roberta Pietrobono, Giulia Maneri, Laura Remondini, Veronica Nobile, Matteo Della Monica, Maria Grazia Pomponi, Maurizio Genuardi, Giovanni Neri, Pietro Chiurazzi
    Genes, 2020
  • Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
    Veronica Nobile, Federica Palumbo, Stella Lanni, Valentina Ghisio, Alberto Vitali, Massimo Castagnola, Valeria Marzano, Giuseppe Maulucci, Claudio De Angelis, Marco De Spirito, Laura Pacini, Laura D’Andrea, Rino Ragno, Giulia Stazi, Sergio Valente, Antonello Mai, Pietro Chiurazzi, Maurizio Genuardi, Giovanni Neri, Elisabetta Tabolacci
    Human Genetics, 2020
  • The mTOR kinase inhibitor rapamycin enhances the expression and release of pro-inflammatory cytokine interleukin 6 modulating the activation of human microglial cells
    N. Cappoli, D. Mezzogori, E. Tabolacci, I. Coletta, P. Navarra, G. Pani, C. Dello Russo
    Excli Journal, 2019
  • Reactivation of the FMR1 Gene
    Elisabetta Tabolacci, Pietro Chiurazzi
    Fragile X Syndrome from Genetics to Targeted Treatment, 2017
  • Epigenetic causes of intellectual disability-the fragile X syndrome paradigm
    E. Tabolacci, G. Neri
    Neuropsychiatric Disorders and Epigenetics, 2017
  • Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue
    Alessandro Vaisfeld, Maria Grazia Pomponi, Roberta Pietrobono, Elisabetta Tabolacci, Giovanni Neri
    American Journal of Medical Genetics Part A, 2017
  • CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations
    Urszula Brykczynska, Eline Pecho-Vrieseling, Anke Thiemeyer, Jessica Klein, Isabelle Fruh, Thierry Doll, Carole Manneville, Sascha Fuchs, Mariavittoria Iazeolla, Martin Beibel, Guglielmo Roma, Ulrike Naumann, Nicholas Kelley, Edward J. Oakeley, Matthias Mueller, Baltazar Gomez-Mancilla, Marc Bühler, Elisabetta Tabolacci, Pietro Chiurazzi, Giovanni Neri, Tewis Bouwmeester, Francesco Paolo Di Giorgio, Barna D. Fodor
    Stem Cell Reports, 2016
  • Transcriptional reactivation of the FMR1 Gene. A possible approach to the treatment of the fragile X syndrome
    Elisabetta Tabolacci, Federica Palumbo, Veronica Nobile, Giovanni Neri
    Genes, 2016
  • Defining the role of the CGGBP1 protein in FMR1 gene expression
    Martina Goracci, Stella Lanni, Giorgia Mancano, Federica Palumbo, Pietro Chiurazzi, Giovanni Neri, Elisabetta Tabolacci
    European Journal of Human Genetics, 2016
  • Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells
    Elisabetta Tabolacci, Giorgia Mancano, Stella Lanni, Federica Palumbo, Martina Goracci, Fabrizio Ferrè, Manuela Helmer-Citterich, Giovanni Neri
    Epigenetics and Chromatin, 2016
  • What mechanisms induce methylation of FMR1 gene full mutation? A still unanswered question
    Elisabetta Tabolacci, Giovanni Neri
    Epigenetics and Human Health, 2016
  • Epigenetics, fragile X syndrome and transcriptional therapy
    Elisabetta Tabolacci, Pietro Chiurazzi
    American Journal of Medical Genetics Part A, 2013
  • Role of CTCF Protein in Regulating FMR1 Locus Transcription
    Stella Lanni, Martina Goracci, Loredana Borrelli, Giorgia Mancano, Pietro Chiurazzi, Umberto Moscato, Fabrizio Ferrè, Manuela Helmer-Citterich, Elisabetta Tabolacci, Giovanni Neri
    Plos Genetics, 2013
  • Epigenetic modifications of the FMR1 gene
    Elisabetta Tabolacci, Giovanni Neri
    Methods in Molecular Biology, 2013
  • The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro
    Elisabetta Tabolacci, Filomena Pirozzi, Baltazar Gomez-Mancilla, Fabrizio Gasparini, Giovanni Neri
    BMC Medical Genetics, 2012
  • Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family
    Filomena Pirozzi, Francesca Romana Di Raimo, Ginevra Zanni, Enrico Bertini, Pierre Billuart, Tommaso Tartaglione, Elisabetta Tabolacci, Andrea Brancaccio, Giovanni Neri, Pietro Chiurazzi
    Human Mutation, 2011
  • The FRAXopathies: Definition, overview, and update
    Filomena Pirozzi, Elisabetta Tabolacci, Giovanni Neri
    American Journal of Medical Genetics Part A, 2011
  • Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys
    MariaGiulia Torrioli, Silvia Vernacotola, Chiara Setini, Francesca Bevilacqua, Diego Martinelli, Mike Snape, Julie A Hutchison, Francesca Romana Di Raimo, Elisabetta Tabolacci, Giovanni Neri
    American Journal of Medical Genetics Part A, 2010
  • Tumorigenic potential of olfactory bulb-derived human adult neural stem cells associates with activation of TERT and NOTCH1
    Patrizia Casalbore, Manuela Budoni, Lucia Ricci-Vitiani, Carlo Cenciarelli, Giovanna Petrucci, Luisa Milazzo, Nicola Montano, Elisabetta Tabolacci, Giulio Maira, Luigi M. Larocca, Roberto Pallini
    Plos One, 2009
  • Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation
    Elisabetta Tabolacci, Ivana De Pascalis, Maria Accadia, Alessandra Terracciano, Umberto Moscato, Pietro Chiurazzi, Giovanni Neri
    Pharmacogenetics and Genomics, 2008
  • Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations
    Elisabetta Tabolacci, Umberto Moscato, Francesca Zalfa, Claudia Bagni, Pietro Chiurazzi, Giovanni Neri
    European Journal of Human Genetics, 2008
  • A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys
    M. Giulia Torrioli, Silvia Vernacotola, Laura Peruzzi, Elisabetta Tabolacci, Montserrat Mila, Roberto Militerni, Sebastiano Musumeci, Feliciano J. Ramos, Marìa Frontera, Giovanni Sorge, Elisabetta Marzullo, Giusi Romeo, Louis Vallee, Edvige Veneselli, Elena Cocchi, Eleonora Garbarino, Umberto Moscato, Pietro Chiurazzi, Stefania D'Iddio, Menotti Calvani, Giovanni Neri
    American Journal of Medical Genetics Part A, 2008
  • A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy
    Elisabetta Tabolacci, Maria Grazia Pomponi, Roberta Pietrobono, Pietro Chiurazzi, Giovanni Neri
    European Journal of Human Genetics, 2008
  • A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability
    Francesca Zalfa, Boris Eleuteri, Kirsten S Dickson, Valentina Mercaldo, Silvia De Rubeis, Alessandra di Penta, Elisabetta Tabolacci, Pietro Chiurazzi, Giovanni Neri, Seth G N Grant, Claudia Bagni
    Nature Neuroscience, 2007
  • Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients
    Anna Modoni, Maria Fiorella Contarino, Anna Rita Bentivoglio, Elisabetta Tabolacci, Massimo Santoro, Maria Lucia Calcagni, Pietro A. Tonali, Giovanni Neri, Gabriella Silvestri
    Movement Disorders, 2007
  • MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.
    Rosa Ferrentino, Maria Teresa Bassi, David Chitayat, Elisabetta Tabolacci, Germana Meroni
    Human Mutation, 2007
  • A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family
    Elisabetta Tabolacci, M. Grazia Pomponi, Roberta Pietrobono, Alessandra Terracciano, Pietro Chiurazzi, Giovanni Neri
    American Journal of Medical Genetics, 2006
  • Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome
    Elisabetta Tabolacci, Marcella Zollino, Rosetta Lecce, Eugenio Sangiorgi, Fiorella Gurrieri, Vincenzo Leuzzi, John M. Opitz, Giovanni Neri
    Clinical Dysmorphology, 2005
  • Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments
    Elisabetta Tabolacci, Roberta Pietrobono, Umberto Moscato, Ben A Oostra, Pietro Chiurazzi, Giovanni Neri
    European Journal of Human Genetics, 2005
  • Molecular dissection of the events leading to inactivation of the FMR1 gene
    Roberta Pietrobono, Elisabetta Tabolacci, Francesca Zalfa, Ilaria Zito, Alessandra Terracciano, Umberto Moscato, Claudia Bagni, Ben Oostra, Pietro Chiurazzi, Giovanni Neri
    Human Molecular Genetics, 2005
  • Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister-Killian syndrome
    P. Chiurazzi, J. Bajer, E. Tabolacci, M.G. Pomponi, R. Lecce, M. Zollino, G. Neri
    American Journal of Medical Genetics, 2004
  • X-linked mental retardation (XLMR): From clinical conditions to cloned genes
    Pietro Chiurazzi, Elisabetta Tabolacci, Giovanni Neri
    Critical Reviews in Clinical Laboratory Sciences, 2004
  • Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine
    R. Pietrobono
    Nucleic Acids Research, 2002
  • Telomeric associations and chromosome instability in ataxia telangiectasia T cells characterized by TCL1 expression
    Paola Petrinelli, Raffaella Elli, Liana Marcucci, Elisabetta Tabolacci, Concetta Barbieri, Anna Antonelli
    Cancer Genetics and Cytogenetics, 2001

RECENT SCHOLAR PUBLICATIONS

  • Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?
    E Tabolacci, V Nobile, C Pucci, P Chiurazzi
    International Journal of Molecular Sciences 23 (10), 5425 , 2022
    2022
    Citations: 36
  • Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis
    E Tabolacci, MG Pomponi, L Remondini, R Pietrobono, D Orteschi, ...
    Genes 12 (12), 1909 , 2021
    2021
    Citations: 9
  • Effects of remifentanil on human C20 microglial pro-inflammatory activation
    N Cappoli, P Aceto, E Tabolacci, D Mezzogori, L Sollazzi, P Navarra, ...
    European Review for Medical and Pharmacological Sciences 25 (16), 5268-5274 , 2021
    2021
    Citations: 13
  • Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
    E Tabolacci, C Molinario, G Marangi, V Nobile, V Arena, MI Mendes, ...
    Clinical genetics 99 (4), 601-603 , 2021
    2021
    Citations: 5
  • DNA methylation, mechanisms of FMR1 inactivation and therapeutic perspectives for fragile X syndrome
    V Nobile, C Pucci, P Chiurazzi, G Neri, E Tabolacci
    Biomolecules 11 (2), 296 , 2021
    2021
    Citations: 60
  • DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome. Biomolecules 2021, 11, 296
    V Nobile, C Pucci, P Chiurazzi, G Neri, E Tabolacci
    s Note: MDPI stays neutral with regard to jurisdictional claims in published … , 2021
    2021
  • The emerging role of the BDNF-TrkB signaling pathway in the modulation of pain perception
    N Cappoli, E Tabolacci, P Aceto, CD Russo
    Journal of Neuroimmunology 349, 577406 , 2020
    2020
    Citations: 134
  • Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
    E Tabolacci, MG Pomponi, L Remondini, R Pietrobono, V Nobile, ...
    European Journal of Human Genetics 28 (5), 567-575 , 2020
    2020
    Citations: 14
  • DNA methylation in the diagnosis of monogenic diseases
    F Cerrato, A Sparago, F Ariani, F Brugnoletti, L Calzari, F Coppedè, ...
    Genes 11 (4), 355 , 2020
    2020
    Citations: 41
  • Reversion to Normal of FMR1 expanded alleles: A rare event in two independent fragile X syndrome families
    E Tabolacci, R Pietrobono, G Maneri, L Remondini, V Nobile, ...
    Genes 11 (3), 248 , 2020
    2020
    Citations: 12
  • Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
    V Nobile, F Palumbo, S Lanni, V Ghisio, A Vitali, M Castagnola, ...
    Human Genetics 139 (2), 227-245 , 2020
    2020
    Citations: 23
  • WHY DO FMR1 FULL MUTATIONS BECOME METHYLATED? AN OUTSTANDING QUESTION
    G Neri, E Tabolacci, V Nobile
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179 (4), 703-703 , 2019
    2019
  • The mTOR kinase inhibitor rapamycin enhances the expression and release of pro-inflammatory cytokine interleukin 6 modulating the activation of human microglial cells
    N Cappoli, D Mezzogori, E Tabolacci, I Coletta, P Navarra, G Pani, ...
    EXCLI journal 18, 779 , 2019
    2019
    Citations: 31
  • Epigenetic causes of intellectual disability—the fragile X syndrome paradigm
    E Tabolacci, G Neri
    Neuropsychiatric Disorders and Epigenetics, 107-127 , 2017
    2017
    Citations: 5
  • Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue
    A Vaisfeld, MG Pomponi, R Pietrobono, E Tabolacci, G Neri
    American Journal of Medical Genetics Part A 173 (1), 285-288 , 2017
    2017
    Citations: 21
  • Reactivation of the FMR1 Gene
    E Tabolacci, P Chiurazzi
    Fragile X Syndrome, 341-360 , 2017
    2017
  • CGG repeat-induced FMR1 silencing depends on the expansion size in human iPSCs and neurons carrying unmethylated full mutations
    U Brykczynska, E Pecho-Vrieseling, A Thiemeyer, J Klein, I Fruh, T Doll, ...
    Stem Cell Reports 7 (6), 1059-1071 , 2016
    2016
    Citations: 37
  • Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells
    E Tabolacci, G Mancano, S Lanni, F Palumbo, M Goracci, F Ferrè, ...
    Epigenetics & chromatin 9 (1), 1-15 , 2016
    2016
    Citations: 40
  • Transcriptional reactivation of the FMR1 gene. A possible approach to the treatment of the fragile X syndrome
    E Tabolacci, F Palumbo, V Nobile, G Neri
    Genes 7 (8), 49 , 2016
    2016
    Citations: 56
  • Defining the role of the CGGBP1 protein in FMR1 gene expression
    M Goracci, S Lanni, G Mancano, F Palumbo, P Chiurazzi, G Neri, ...
    European Journal of Human Genetics 24 (5), 697-703 , 2016
    2016
    Citations: 11

MOST CITED SCHOLAR PUBLICATIONS

  • A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability
    F Zalfa, B Eleuteri, KS Dickson, V Mercaldo, S De Rubeis, A di Penta, ...
    Nature neuroscience 10 (5), 578-587 , 2007
    2007
    Citations: 437
  • Molecular dissection of the events leading to inactivation of the FMR1 gene
    R Pietrobono, E Tabolacci, F Zalfa, I Zito, A Terracciano, U Moscato, ...
    Human molecular genetics 14 (2), 267-277 , 2005
    2005
    Citations: 159
  • The emerging role of the BDNF-TrkB signaling pathway in the modulation of pain perception
    N Cappoli, E Tabolacci, P Aceto, CD Russo
    Journal of Neuroimmunology 349, 577406 , 2020
    2020
    Citations: 134
  • Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5‐azadeoxycytidine
    R Pietrobono, MG Pomponi, E Tabolacci, B Oostra, P Chiurazzi, G Neri
    Nucleic acids research 30 (14), 3278-3285 , 2002
    2002
    Citations: 132
  • A double‐blind, parallel, multicenter comparison of L ‐acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys
    MG Torrioli, S Vernacotola, L Peruzzi, E Tabolacci, M Mila, R Militerni, ...
    American Journal of Medical Genetics Part A 146 (7), 803-812 , 2008
    2008
    Citations: 130
  • A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the Attention Deficit Hyperactivity Disorder in Fragile X Syndrome boys
    G Neri, E Tabolacci, P Chiurazzi
    Am Jour Med Genet-Part A, 803-812 , 2008
    2008
    Citations: 130
  • Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments
    E Tabolacci, R Pietrobono, U Moscato, BA Oostra, P Chiurazzi, G Neri
    European journal of human genetics 13 (5), 641-648 , 2005
    2005
    Citations: 110
  • Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations
    E Tabolacci, U Moscato, F Zalfa, C Bagni, P Chiurazzi, G Neri
    European journal of human genetics 16 (12), 1487-1498 , 2008
    2008
    Citations: 108
  • Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys
    MG Torrioli, S Vernacotola, C Setini, F Bevilacqua, D Martinelli, M Snape, ...
    American Journal of Medical Genetics Part A 152 (6), 1420-1427 , 2010
    2010
    Citations: 95
  • A truncating mutation in the IL1RAPL1 gene is responsible for X‐linked mental retardation in the MRX21 family
    E Tabolacci, MG Pomponi, R Pietrobono, A Terracciano, P Chiurazzi, ...
    American Journal of Medical Genetics Part A 140 (5), 482-487 , 2006
    2006
    Citations: 64
  • DNA methylation, mechanisms of FMR1 inactivation and therapeutic perspectives for fragile X syndrome
    V Nobile, C Pucci, P Chiurazzi, G Neri, E Tabolacci
    Biomolecules 11 (2), 296 , 2021
    2021
    Citations: 60
  • Transcriptional reactivation of the FMR1 gene. A possible approach to the treatment of the fragile X syndrome
    E Tabolacci, F Palumbo, V Nobile, G Neri
    Genes 7 (8), 49 , 2016
    2016
    Citations: 56
  • Tumorigenic potential of olfactory bulb-derived human adult neural stem cells associates with activation of TERT and NOTCH1
    P Casalbore, M Budoni, L Ricci-Vitiani, C Cenciarelli, G Petrucci, ...
    PLoS One 4 (2), e4434 , 2009
    2009
    Citations: 56
  • Tumorigenic potential of olfactory bulb-derived human adult neural stem cells associates with activation of TERT and NOTCH1.
    E Tabolacci, P Casalbore, M Budoni, L Ricci Vitiani, C Cenciarelli, ...
    Public Library of Science , 2009
    2009
    Citations: 56
  • MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty‐nine novel mutations identified
    R Ferrentino, MT Bassi, D Chitayat, E Tabolacci, G Meroni
    Human mutation 28 (2), 206-207 , 2007
    2007
    Citations: 55
  • Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation
    E Tabolacci, I De Pascalis, M Accadia, A Terracciano, U Moscato, ...
    Pharmacogenetics and genomics 18 (8), 738-741 , 2008
    2008
    Citations: 54
  • X-linked mental retardation (XLMR): from clinical conditions to cloned genes
    P Chiurazzi, E Tabolacci, G Neri
    Critical reviews in clinical laboratory sciences 41 (2), 117-158 , 2004
    2004
    Citations: 52
  • Role of CTCF Protein in Regulating FMR1 Locus Transcription
    S Lanni, M Goracci, L Borrelli, G Mancano, P Chiurazzi, U Moscato, ...
    PLoS genetics 9 (7), e1003601 , 2013
    2013
    Citations: 51
  • The FRAXopathies: Definition, overview, and update
    F Pirozzi, E Tabolacci, G Neri
    American Journal of Medical Genetics Part A 155 (8), 1803-1816 , 2011
    2011
    Citations: 50
  • Epigenetics, fragile X syndrome and transcriptional therapy
    E Tabolacci, P Chiurazzi
    American journal of medical genetics Part A 161 (11), 2797-2808 , 2013
    2013
    Citations: 47