Zobrazeno 1 - 10
of 190
pro vyhledávání: '"Paolo, Vezzoni"'
Autor:
Angela La Grua, Ilaria Rao, Lucia Susani, Franco Lucchini, Elena Raimondi, Paolo Vezzoni, Marianna Paulis
Publikováno v:
Cells, Vol 13, Iss 8, p 666 (2024)
There are thousands of rare genetic diseases that could be treated with classical gene therapy strategies such as the addition of the defective gene via viral or non-viral delivery or by direct gene editing. However, several genetic defects are too c
Externí odkaz:
https://doaj.org/article/7ca2234b15674f8f999320e6f1362edb
Autor:
Marianna Paulis, Lucia Susani, Alessandra Castelli, Teruhiko Suzuki, Takahiko Hara, Letizia Straniero, Stefano Duga, Dario Strina, Stefano Mantero, Elena Caldana, Lucia Sergi Sergi, Anna Villa, Paolo Vezzoni
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 369-377 (2020)
Many human genetic diseases are associated with gross mutations such as aneuploidies, deletions, duplications, or inversions. For these “structural” disorders, conventional gene therapy, based on viral vectors and/or on programmable nuclease-medi
Externí odkaz:
https://doaj.org/article/cafafd205a104ab4b7eb5032e65b38ea
Autor:
Nicolò Salvarani, Silvia Crasto, Michele Miragoli, Alessandro Bertero, Marianna Paulis, Paolo Kunderfranco, Simone Serio, Alberto Forni, Carla Lucarelli, Matteo Dal Ferro, Veronica Larcher, Gianfranco Sinagra, Paolo Vezzoni, Charles E. Murry, Giuseppe Faggian, Gianluigi Condorelli, Elisa Di Pasquale
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Mutation of LMNA, encoding Lamin A/C nuclear proteins, cause dilated cardiomyopathy and conduction disorders. Here, the authors show that patient-specific iPSC-derived CMs carrying the K219T LMNA mutation have downregulated Nav1.5 channels due to dyn
Externí odkaz:
https://doaj.org/article/975fc60819e84ad6adb18ec63c887d5c
Autor:
Paola Crociara, Maria Novella Chieppa, Elena Vallino Costassa, Elena Berrone, Marina Gallo, Monica Lo Faro, Maria Domenica Pintore, Barbara Iulini, Antonio D'Angelo, Giovanni Perona, Alberto Botter, Donato Formicola, Alberto Rainoldi, Marianna Paulis, Paolo Vezzoni, Federica Meli, Fiorenzo Antonio Peverali, Caterina Bendotti, Maria Chiara Trolese, Laura Pasetto, Valentina Bonetto, Giovanna Lazzari, Roberto Duchi, Andrea Perota, Irina Lagutina, Corinne Quadalti, Maria Silvia Gennero, Daniela Dezzutto, Rosanna Desiato, Marina Boido, Matilde Ghibaudi, Maria Consuelo Valentini, Maria Caramelli, Cesare Galli, Cristina Casalone, Cristiano Corona
Publikováno v:
Neurobiology of Disease, Vol 124, Iss , Pp 263-275 (2019)
Amyotrophic Lateral Sclerosis (ALS) is a neural disorder gradually leading to paralysis of the whole body. Alterations in superoxide dismutase SOD1 gene have been linked with several variants of familial ALS. Here, we investigated a transgenic (Tg) c
Externí odkaz:
https://doaj.org/article/a0482bdf80404e0594753d7ba9be41dd
Autor:
Eleonora Palagano, Sharon Muggeo, Laura Crisafulli, Irina L. Tourkova, Dario Strina, Stefano Mantero, Elena Fontana, Silvia L. Locatelli, Marta Monari, Emanuela Morenghi, Carmelo Carlo-Stella, John B. Barnett, Harry C. Blair, Paolo Vezzoni, Anna Villa, Cristina Sobacchi, Francesca Ficara
Publikováno v:
Bone Reports, Vol 12, Iss , Pp 100242- (2020)
Background: Autosomal recessive osteopetrosis is a rare skeletal disorder with increased bone density due to a failure in osteoclast bone resorption. In most cases, the defect is cell-autonomous, and >50% of patients bear mutations in the TCIRG1 gene
Externí odkaz:
https://doaj.org/article/3f8fe2d8e8824e56b10a8f82d4302cc9
Autor:
Gaetana Lanzi, Rosalba Monica Ferraro, Stefania Masneri, Giovanna Piovani, Chiara Barisani, Cristina Sobacchi, Anna Villa, Paolo Vezzoni, Silvia Giliani
Publikováno v:
Stem Cell Research, Vol 42, Iss , Pp - (2020)
Autosomal recessive osteopetrosis (ARO) is a rare inherited disorder leading to increased bone density with impairment in bone resorption. Among the genes responsible for ARO, the TCIRG1 gene, coding for the a3 subunit of the osteoclast proton pump,
Externí odkaz:
https://doaj.org/article/75dc4a791c1a4a38a302ed744b9da98d
Autor:
Federico Colombo, Marta Ubezio, Emanuela Morenghi, Laura Crisafulli, Sharon Muggeo, Paolo Vezzoni, Clelia Peano, Elena Fontana, Anna Villa, Matteo G. Della Porta, Francesca Ficara, Rosita Rigoni, Paolo Uva
Publikováno v:
Stem Cell Reports
Summary PBX1 regulates the balance between self-renewal and differentiation of hematopoietic stem cells and maintains proto-oncogenic transcriptional pathways in early progenitors. Its increased expression was found in myeloproliferative neoplasm (MP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb1f95b21cf970b7f018a6a2240ad5a3
https://doi.org/10.1016/j.stemcr.2021.09.016
https://doi.org/10.1016/j.stemcr.2021.09.016
Autor:
Tui Neri, Sharon Muggeo, Marianna Paulis, Maria Elena Caldana, Laura Crisafulli, Dario Strina, Maria Luisa Focarelli, Francesca Faggioli, Camilla Recordati, Samantha Scaramuzza, Eugenio Scanziani, Stefano Mantero, Chiara Buracchi, Cristina Sobacchi, Angelo Lombardo, Luigi Naldini, Paolo Vezzoni, Anna Villa, Francesca Ficara
Publikováno v:
Stem Cell Reports, Vol 5, Iss 4, Pp 558-568 (2015)
Autosomal recessive osteopetrosis is a human bone disease mainly caused by TCIRG1 gene mutations that prevent osteoclasts resorbing activity, recapitulated by the oc/oc mouse model. Bone marrow transplantation is the only available treatment, limited
Externí odkaz:
https://doaj.org/article/647f9e54a0b446388f71402cf3173ba1
Autor:
Elena Caldana, Marianna Paulis, Takahiko Hara, Alessandra Castelli, Paolo Vezzoni, Stefano Mantero, Letizia Straniero, Lucia Sergi Sergi, Stefano Duga, Anna Villa, Lucia Susani, Teruhiko Suzuki, Dario Strina
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 369-377 (2020)
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 369-377 (2020)
Many human genetic diseases are associated with gross mutations such as aneuploidies, deletions, duplications, or inversions. For these “structural” disorders, conventional gene therapy, based on viral vectors and/or on programmable nuclease-medi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b471f95de550c0d42cc86fcb06387b92
https://doi.org/10.1016/j.omtm.2020.01.003
https://doi.org/10.1016/j.omtm.2020.01.003
Autor:
Frédéric Grosjean, Sonia Nasi, Pascal Schneider, Véronique Chobaz, Alexandra Liu, Vanessa Mordasini, Kristell Moullec, Paolo Vezzoni, Christine Lavanchy, Nathalie Busso, Hans Acha-Orbea, Driss Ehirchiou
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0133917 (2015)
Langerhans cell histiocytosis (LCH) is a rare disease caused by the clonal accumulation of dendritic Langerhans cells, which is often accompanied by osteolytic lesions. It has been reported that osteoclast-like cells play a major role in the pathogen
Externí odkaz:
https://doaj.org/article/cd69079c75f94951afbfdf222f02bdf3