Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Martina Venditti"'
Autor:
Martina Venditti, Catia Pedalino, Marion Rosello, Giulia Fasano, Malo Serafini, Céline Revenu, Filippo Del Bene, Marco Tartaglia, Antonella Lauri
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract Current genetic modification and phenotyping methods in teleost fish allow detailed investigation of vertebrate mechanisms of development, modeling of specific aspects of human diseases and efficient testing of drugs at an organ/organismal l
Externí odkaz:
https://doaj.org/article/c595a8ce9c5949c2bb8dec48c02be6c1
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
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
While individually rare, disorders affecting development collectively represent a substantial clinical, psychological, and socioeconomic burden to patients, families, and society. Insights into the molecular mechanisms underlying these disorders are
Externí odkaz:
https://doaj.org/article/055c4cb9eb114a13b94aebe49f983835
Autor:
Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L Welch, Paolo C Colombo, Stephanie M Kochav, Richard Chang, Rebekah Barrick, Marina Trivisano, Alessia Micalizzi, Rossella Borghi, Elena Messina, Cecilia Mancini, Simone Pizzi, Flavia De Santis, Marion Rosello, Nicola Specchio, Claudia Compagnucci, Kirsty McWalter, Wendy K Chung, Filippo Del Bene, Marco Tartaglia
Publikováno v:
Human Molecular Genetics. 32:473-488
Kinesins are motor proteins involved in microtubule (MT)-mediated intracellular transport. They contribute to key cellular processes, including intracellular trafficking, organelle dynamics and cell division. Pathogenic variants in kinesin-encoding g
Autor:
Flavia Trettel, Cristina Roseti, Rosalba Carrozzo, Teresa Rizza, Susanna Cogo, Anna Rita Bentivoglio, Claudia Carducci, Cristina Limatola, Alice Traversa, Gianfranco Bocchinfuso, Martina Venditti, Laura Civiero, Michela Di Nottia, Viviana Caputo, Eleonora Palma, Miriam Sciaccaluga, Ambra Lanzo, Maria Paglione, Luca Pannone, Manju A. Kurian, Serena Galosi, Simone Martinelli, Vincenzo Leuzzi, Lorenzo Stella, A Farrotti, Sergio Fucile, Laura Bernardini, Viviana Cordeddu, Joanne Ng, Marco Tartaglia, Elia Di Schiavi, Elisa Greggio, Andrea Ciolfi
Publikováno v:
Parkinsonism & related disorders 72 (2020): 75–79. doi:10.1016/j.parkreldis.2020.02.003
info:cnr-pdr/source/autori:Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A.; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo/titolo:Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism/doi:10.1016%2Fj.parkreldis.2020.02.003/rivista:Parkinsonism & related disorders/anno:2020/pagina_da:75/pagina_a:79/intervallo_pagine:75–79/volume:72
info:cnr-pdr/source/autori:Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A.; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo/titolo:Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism/doi:10.1016%2Fj.parkreldis.2020.02.003/rivista:Parkinsonism & related disorders/anno:2020/pagina_da:75/pagina_a:79/intervallo_pagine:75–79/volume:72
Objective To investigate the molecular cause(s) underlying a severe form of infantile-onset parkinsonism and characterize functionally the identified variants. Methods A trio-based whole exome sequencing (WES) approach was used to identify the candid
Autor:
Marco Tartaglia, Simone Martinelli, Giovanni Chillemi, Andrea Ciolfi, Luca Pannone, Serena Cesario, F. Gigliotti, Martina Venditti, Simone Pizzi, Vincenzo Leuzzi, Alessandro Terrinoni, Serena Galosi
Publikováno v:
Parkinsonism & Related Disorders. 84:5-7
Autor:
Viviana Claudia Canale, Giuseppe Torini, Maja Solman, Cristina Peggion, Martina Venditti, Antonella Lauri, Giada Cattani, Gianfranco Bocchinfuso, Chiara De Faveri, Jelmer Hoeksma, Paolo Calligari, Sara Bobone, Giulia Fasano, Marco Tartaglia, Lorenzo Stella, Alessio Bocedi, Tommaso Gandini, Giovanna Carpentieri, Fernando Formaggio, Simone Martinelli, Jeroen den Hertog, Elisabetta Flex, Andrea Quercioli, Massimo Sanchez, Valentina Tirelli, Valerio Santucci, Barbara Biondi, Luca Pannone
Publikováno v:
Journal of Medicinal Chemistry
Journal of medicinal chemistry, 64(21), 15973-15990. American Chemical Society
Journal of medicinal chemistry (2021). doi:10.1021/acs.jmedchem.1c01371
info:cnr-pdr/source/autori:Bobone, Sara; Pannone, Luca; Biondi, Barbara; Solman, Maja; Flex, Elisabetta; Canale, Viviana Claudia; Calligari, Paolo; De Faveri, Chiara; Gandini, Tommaso; Quercioli, Andrea; Torini, Giuseppe; Venditti, Martina; Lauri, Antonella; Fasano, Giulia; Hoeksma, Jelmer; Santucci, Valerio; Cattani, Giada; Bocedi, Alessio; Carpentieri, Giovanna; Tirelli, Valentina; Sanchez, Massimo; Peggion, Cristina; Formaggio, Fernando; Den Hertog, Jeroen; Martinelli, Simone; Bocchinfuso, Gianfranco; Tartaglia, Marco; Stella, Lorenzo/titolo:Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions/doi:10.1021%2Facs.jmedchem.1c01371/rivista:Journal of medicinal chemistry/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume
Journal of medicinal chemistry, 64(21), 15973-15990. American Chemical Society
Journal of medicinal chemistry (2021). doi:10.1021/acs.jmedchem.1c01371
info:cnr-pdr/source/autori:Bobone, Sara; Pannone, Luca; Biondi, Barbara; Solman, Maja; Flex, Elisabetta; Canale, Viviana Claudia; Calligari, Paolo; De Faveri, Chiara; Gandini, Tommaso; Quercioli, Andrea; Torini, Giuseppe; Venditti, Martina; Lauri, Antonella; Fasano, Giulia; Hoeksma, Jelmer; Santucci, Valerio; Cattani, Giada; Bocedi, Alessio; Carpentieri, Giovanna; Tirelli, Valentina; Sanchez, Massimo; Peggion, Cristina; Formaggio, Fernando; Den Hertog, Jeroen; Martinelli, Simone; Bocchinfuso, Gianfranco; Tartaglia, Marco; Stella, Lorenzo/titolo:Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions/doi:10.1021%2Facs.jmedchem.1c01371/rivista:Journal of medicinal chemistry/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume
We developed a new class of inhibitors of protein-protein interactions of the SHP2 phosphatase, which is pivotal in multiple signaling pathways and a central target in the therapy of cancer and rare diseases. Currently available SHP2 inhibitors targe
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
Autor:
Fadi F. Hamdan, Marco Tartaglia, Vincenzo Leuzzi, Simone Pizzi, Francesca Nardecchia, Nenad Blau, Alberto Burlina, Sabina Barresi, Martina Venditti, Filippo Manti
Publikováno v:
Parkinsonism & Related Disorders. 61:207-210
Introduction Clathrins play a key role in endocytosis, recycling, and trafficking as well as the generation of presynaptic vesicles. We report a new clinical condition associated with a de novo variant in the CLTC gene, which encodes the clathrin hea
Publikováno v:
Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
While individually rare, disorders affecting development collectively represent a substantial clinical, psychological, and socioeconomic burden to patients, families, and society. Insights into the molecular mechanisms underlying these disorders are