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Bio
Dr. F. Della Ragione has long-lasting experience in human genetic, epigenetic and epigenomic fields. Since many years, she has been studying molecular mechanisms deregulated in Rett syndrome (RTT), by using both genetic and epigenetic approaches and taking advantage of both cellular and mouse models. RTT is a rare and devastating neurodevelopmental disease classified as an autism spectrum disorder (ASD) and a chromatin disease, caused by mutations in the epigenetic factor MeCP2. Early in her career, Dr. Della Ragione identified new mutations in MECP2 gene in RTT patients, and contributed to study MeCP2 target genes and genetic modifiers of RTT. She also studied epigenetic mechanisms involved in the pathogenesis of two other chromatin diseases, ICF and FSHD syndromes. During her post-doc, she developed two novel epigenetic-based strategies for non-invasive prenatal diagnosis of X-chromosome aneuploidies. She also contributed to study the role of DNA methylation in the regulation of plasticity in the mouse developing visual cortex.
In the past years, she highlighted the involvement of oxidative stress in RTT pathogenesis, taking advantage of both patients and murine models of RTT, identifying the oxidative brain damage as a previously unrecognized hallmark feature of RTT in mice, and suggesting a role of MeCP2 in the protection of the brain from oxidative stress.
In the last years, her research activity has been focused in the dissection of molecular mechanisms underlying MeCP2-mediated organization of chromatin architecture in neurons, identifying novel MeCP2 molecular partners involved in this process, as the chromatin remodeler ATRX and ncRNAs, by using sophisticated molecular biology and imaging methodologies (3D DNA/RNA FISH and immuno-RNA FISH) and chromatin/RNA immunoprecipitation techniques.
The main research interest of her laboratory is focused on the study of the imbalance of glycosphingolipid metabolism in Rett syndrome, its molecular bases and its correction by ad hoc therapeutic approaches, by using well established RTT models and by generating new mouse and cellular model systems. These studies are achieved through novel and sophisticated methodologies and genome-wide approaches.
With a parallel research project, she is also interested to the identification of novel mutations and/or pathogenetic variants linked to Rett syndrome, through whole exome sequencing of DNA samples from RTT patients without mutations in the known genes and from their parents (trios).
Research Interests
Papers共 48 篇Author StatisticsCo-AuthorSimilar Experts
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Vincenzo Lullo,Francesco Cecere, Saveria Batti, Sara Allegretti,Barbara Morone,Salvatore Fioriniello,Laura Pisapia,Rita Genesio,Floriana Della Ragione,Giuliana Giardino,Claudio Pignata,Andrea Riccio,Maria R. Matarazzo,Maria Strazzullo
Frontiers in Immunology (2024)
JOURNAL OF THE AMERICAN HEART ASSOCIATIONno. 6 (2024)
Genome Researchno. 2 (2023): 169-183
Genome researchno. 2 (2023): 169-183
Varsha Poondi Krishnan, Barbara Morone,Shir Toubiana,Monika Krzak,Salvatore Fioriniello,Floriana Della Ragione, Maria Strazzullo,Claudia Angelini,Sara Selig,Maria R. Matarazzo
GENOME RESEARCHno. 2 (2023): 169-183
Varsha Poondi Krishnan, Barbara Morone,Shir Toubiana,Monika Krzak,Salvatore Fioriniello,Floriana Della Ragione, Maria Strazzullo, Claudia Angelini,Sara Selig,Maria R. Matarazzo
Genome Researchno. 2 (2023): 169-183
Maurizio Forte,Simona Marchitti,Flavio Di Nonno,Rosita Stanzione,Leonardo Schirone,Maria Cotugno,Franca Bianchi,Sonia Schiavon,Salvatore Raffa,Danilo Ranieri,Salvatore Fioriniello,Floriana Della Ragione,Maria Rosaria Torrisi,Roberto Carnevale,Valentina Valenti,Francesco Versaci,Giacomo Frati,Carmine Vecchione,Massimo Volpe,Speranza Rubattu,Sebastiano Sciarretta
Riccardo Aiese Cigliano,Riccardo Aversano,Antonio Di Matteo,Samuela Palombieri,Pasquale Termolino,Claudia Angelini,Hamed Bostan,Maria Cammareri,Federica Maria Consiglio,Floriana Della Ragione,Rosa Paparo,Vladimir Totev Valkov,Antonella Vitiello,Domenico Carputo,Maria Luisa Chiusano,Maurizio D'Esposito,Silvana Grandillo,Maria Rosaria Matarazzo,Luigi Frusciante,Nunzio D'Agostino,Clara Conicella
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Author Statistics
#Papers: 48
#Citation: 922
H-Index: 18
G-Index: 30
Sociability: 6
Diversity: 3
Activity: 28
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