Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Valentina Muto"'
Autor:
Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, Alban Ziegler, Giovanni Chillemi, Lucia Bertuccini, Antonella Tinari, Annalisa Vetro, Francesca Pantaleoni, Simone Pizzi, Libenzio Adrian Conti, Stefania Petrini, Alessandro Bruselles, Ingrid Guarnetti Prandi, Cecilia Mancini, Balasubramanian Chandramouli, Magalie Barth, Céline Bris, Donatella Milani, Angelo Selicorni, Marina Macchiaiolo, Michaela V. Gonfiantini, Andrea Bartuli, Riccardo Mariani, Cynthia J. Curry, Renzo Guerrini, Anne Slavotinek, Maria Iascone, Bruno Dallapiccola, Mohammad Reza Ahmadian, Antonella Lauri, Marco Tartaglia
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-29 (2022)
Disruptions to the ER-Golgi network can lead to neurodevelopmental disorders, though our understanding of these Golgipathies remains incomplete. Here Lauri, Tartaglia and colleagues show that ARF3 mutations cause a rare pediatric neurological disorde
Externí odkaz:
https://doaj.org/article/a42e4ca5b10d4b7dba9201eff5862471
Autor:
Luca Pannone, Valentina Muto, Francesca Nardecchia, Martina Di Rocco, Emilia Marchei, Federica Tosato, Stefania Petrini, Giada Onorato, Enrico Lanza, Lucia Bertuccini, Filippo Manti, Viola Folli, Serena Galosi, Elia Di Schiavi, Vincenzo Leuzzi, Marco Tartaglia, Simone Martinelli
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
De novo CLTC mutations underlie a spectrum of early-onset neurodevelopmental phenotypes having developmental delay/intellectual disability (ID), epilepsy, and movement disorders (MD) as major clinical features. CLTC encodes the widely expressed heavy
Externí odkaz:
https://doaj.org/article/fcf6667d12e3415192a604598d029ea0
Autor:
Valentina Muto, Federica Benigni, Valentina Magliocca, Rossella Borghi, Elisabetta Flex, Valentina Pallottini, Alessandro Rosa, Claudia Compagnucci, Marco Tartaglia
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 9, p 7988 (2023)
Induced pluripotent stem cells (iPSCs) have been established as a reliable in vitro disease model system and represent a particularly informative tool when animal models are not available or do not recapitulate the human pathophenotype. The recognize
Externí odkaz:
https://doaj.org/article/fb762f23f059434e908d9cca7182f588
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 24, p 13674 (2021)
To date, gene therapy has employed viral vectors to deliver therapeutic genes. However, recent progress in molecular and cell biology has revolutionized the field of stem cells and gene therapy. A few years ago, clinical trials started using stem cel
Externí odkaz:
https://doaj.org/article/11461a6b5f5b45eca71b9f46af8af15a
Autor:
Riccardo Riccardi, Marco Tartaglia, Anna Lasorella, Massimo Caldarelli, Maurizio Martini, Massimiliano Mirabella, Roberta Morosetti, Matteo Lucchini, Nadia Trivieri, Andrea Ciolfi, Alessandro Bruselles, Valentina Muto, Daniela Meco, Tiziana Servidei
Fusion transcripts identified by ChimeraScan in EPP-MI line
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::684e56206db10cd4d9bdd29c8fa1d2cc
https://doi.org/10.1158/0008-5472.22418292
https://doi.org/10.1158/0008-5472.22418292
Autor:
Riccardo Riccardi, Marco Tartaglia, Anna Lasorella, Massimo Caldarelli, Maurizio Martini, Massimiliano Mirabella, Roberta Morosetti, Matteo Lucchini, Nadia Trivieri, Andrea Ciolfi, Alessandro Bruselles, Valentina Muto, Daniela Meco, Tiziana Servidei
The basis for molecular and cellular heterogeneity in ependymomas of the central nervous system is not understood. This study suggests a basis for this phenomenon in the selection for mitogen-independent (MI) stem-like cells with impaired proliferati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::403030ec942056481ded5ece5bbe972d
https://doi.org/10.1158/0008-5472.c.6510087.v1
https://doi.org/10.1158/0008-5472.c.6510087.v1
Autor:
Riccardo Riccardi, Marco Tartaglia, Anna Lasorella, Massimo Caldarelli, Maurizio Martini, Massimiliano Mirabella, Roberta Morosetti, Matteo Lucchini, Nadia Trivieri, Andrea Ciolfi, Alessandro Bruselles, Valentina Muto, Daniela Meco, Tiziana Servidei
Description of additional methods and procedures used in the study; list of primers and antibodies used.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38372fecb9ca0c14791be0508f8d15b4
https://doi.org/10.1158/0008-5472.22418295
https://doi.org/10.1158/0008-5472.22418295
Autor:
Riccardo Riccardi, Marco Tartaglia, Anna Lasorella, Massimo Caldarelli, Maurizio Martini, Massimiliano Mirabella, Roberta Morosetti, Matteo Lucchini, Nadia Trivieri, Andrea Ciolfi, Alessandro Bruselles, Valentina Muto, Daniela Meco, Tiziana Servidei
Characterization of ependymoma lines (S1); Nested two-round PCR for detection of SEC61G-EGFR gene fusion (S2); Expression of mutant EGFR in patient- and xenograft-derived lines (S3); EGFR signaling in MD and MI ependymoma lines and effects of EGFR TK
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::179227571b9cace8f65f2ca255045594
https://doi.org/10.1158/0008-5472.22418298
https://doi.org/10.1158/0008-5472.22418298
Autor:
Manuela Priolo, Valentina Palermo, Francesca Aiello, Andrea Ciolfi, Luca Pannone, Valentina Muto, Marialetizia Motta, Cecilia Mancini, Francesca Clementina Radio, Marcello Niceta, Chiara Leoni, Letizia Pintomalli, Rosalba Carrozzo, Giuseppe Rajola, Corrado Mammì, Giuseppe Zampino, Simone Martinelli, Bruno Dallapiccola, Pietro Pichierri, Marco Tartaglia
Publikováno v:
Clinical geneticsREFERENCES. 102(1)
Prompt diagnosis of complex phenotypes is a challenging task in clinical genetics. Whole exome sequencing has proved to be effective in solving such conditions. Here, we report on an unpredictable presentation of Werner Syndrome (WRNS) in a 12-year-o
Autor:
Antonella Lauri, Simona Coppola, Renzo Guerrini, Alban Ziegler, Marco Tartaglia, Andrea Bartuli, Maria Iascone, Ingrid Guarnetti Prandi, Angelo Selicorni, Balasubramanian Chandramouli, Magalie Barth, Marina Macchiaiolo, Annalisa Vetro, Martina Venditti, Francesca Clementina Radio, Simone Pizzi, Valentina Muto, Bruno Dallapiccola, Giulia Fasano, Alessandro Bruselles, Michaela Veronika Gonfiantini, Francesca Pantaleoni, Libenzio Adrian Conti, Donatella Milani, Stefania Petrini, Anne Slavotinek, Giovanni Chillemi, Céline Bris
Vesicle biogenesis, trafficking and signaling via the ER-Golgi network support essential processes during development and their disruption can lead to neurodevelopmental disorders and neurodegeneration. We report that de novo missense variants in ARF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47b3810770c334767077040195064f46
https://doi.org/10.21203/rs.3.rs-678090/v1
https://doi.org/10.21203/rs.3.rs-678090/v1