Marianna Paulis

@article{pmid32099849,

title = {Chromosome Ŧransplantation: A Possible Approach to Ŧreat Ħuman X-linked Đisorders},

author = {M Paulis and L Susani and A Castelli and T Suzuki and T Hara and L Straniero and S Duga and D Strina and S Mantero and E Caldana and L S Sergi and A Villa and P Vezzoni},

year  = {2020},

date = {2020-06-01},

journal = {Mol Ther Methods Clin Dev},

volume = {17},

pages = {369--377},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32826895,

title = {Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons},

author = {P G Mazzara and S Muggeo and M Luoni and L Massimino and M Zaghi and P T Valverde and S Brusco and M J Marzi and C Palma and G Colasante and A Iannielli and M Paulis and C Cordiglieri and S G Giannelli and P Podini and C Gellera and F Taroni and F Nicassio and M Rasponi and V Broccoli},

year  = {2020},

date = {2020-01-01},

journal = {Nat Commun},

volume = {11},

number = {1},

pages = {4178},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31118417,

title = {Ŧhe K219Ŧ-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy},

author = {N Salvarani and S Crasto and M Miragoli and A Bertero and M Paulis and P Kunderfranco and S Serio and A Forni and C Lucarelli and M Dal Ferro and V Larcher and G Sinagra and P Vezzoni and C E Murry and G Faggian and G Condorelli and E Di Pasquale},

year  = {2019},

date = {2019-01-01},

journal = {Nat Commun},

volume = {10},

number = {1},

pages = {2267},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30471417,

title = {Motor neuron degeneration, severe myopathy and ŦĐP-43 increase in a transgenic pig model of SOĐ1-linked familiar ALS},

author = {P Crociara and M N Chieppa and E Vallino Costassa and E Berrone and M Gallo and M Lo Faro and M D Pintore and B Iulini and A DÁngelo and G Perona and A Botter and D Formicola and A Rainoldi and M Paulis and P Vezzoni and F Meli and F A Peverali and C Bendotti and M C Trolese and L Pasetto and V Bonetto and G Lazzari and R Duchi and A Perota and I Lagutina and C Quadalti and M S Gennero and D Dezzutto and R Desiato and M Boido and M Ghibaudi and M C Valentini and M Caramelli and C Galli and C Casalone and C Corona},

year  = {2019},

date = {2019-01-01},

journal = {Neurobiol Dis},

volume = {124},

pages = {263--275},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30895693,

title = {Chromosome Ŧransplantation: Correction of the Chronic Granulomatous Đisease Đefect in Mouse Induced Pluripotent Stem Cells},

author = {A Castelli and L Susani and C Menale and S Muggeo and E Caldana and D Strina and B Cassani and C Recordati and E Scanziani and F Ficara and A Villa and P Vezzoni and M Paulis},

year  = {2019},

date = {2019-01-01},

journal = {Stem Cells},

volume = {37},

number = {7},

pages = {876--887},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31021260,

title = {Correction of a Recessive Genetic Đefect by CRISPR-Cas9-Mediated Endogenous Repair},

author = {L Susani and A Castelli and M Lizier and F Lucchini and P Vezzoni and M Paulis},

year  = {2018},

date = {2018-01-01},

journal = {CRISPR J},

volume = {1},

pages = {230--238},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{meneghini_generation_2017,

title = {Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy},

author = {Vasco Meneghini and Giacomo Frati and Davide Sala and Silvia {De Cicco} and Marco Luciani and Chiara Cavazzin and Marianna Paulis and Wieslawa Mentzen and Francesco Morena and Serena Giannelli and Francesca Sanvito and Anna Villa and Alessandro Bulfone and Vania Broccoli and Sabata Martino and Angela Gritti},

doi = {10.5966/sctm.2015-0414},

issn = {2157-6564},

year  = {2017},

date = {2017-02-01},

journal = {Stem Cells Translational Medicine},

volume = {6},

number = {2},

pages = {352--368},

abstract = {Allogeneic fetal-derived human neural stem cells (hfNSCs) that are under clinical evaluation for several neurodegenerative diseases display a favorable safety profile, but require immunosuppression upon transplantation in patients. Neural progenitors derived from patient-specific induced pluripotent stem cells (iPSCs) may be relevant for autologous ex vivo gene-therapy applications to treat genetic diseases with unmet medical need. In this scenario, obtaining iPSC-derived neural stem cells (NSCs) showing a reliable "NSC signature" is mandatory. Here, we generated human iPSC (hiPSC) clones via reprogramming of skin fibroblasts derived from normal donors and patients affected by metachromatic leukodystrophy (MLD), a fatal neurodegenerative lysosomal storage disease caused by genetic defects of the arylsulfatase A (ARSA) enzyme. We differentiated hiPSCs into NSCs (hiPS-NSCs) sharing molecular, phenotypic, and functional identity with hfNSCs, which we used as a "gold standard" in a side-by-side comparison when validating the phenotype of hiPS-NSCs and predicting their performance after intracerebral transplantation. Using lentiviral vectors, we efficiently transduced MLD hiPSCs, achieving supraphysiological ARSA activity that further increased upon neural differentiation. Intracerebral transplantation of hiPS-NSCs into neonatal and adult immunodeficient MLD mice stably restored ARSA activity in the whole central nervous system. Importantly, we observed a significant decrease of sulfatide storage when ARSA-overexpressing cells were used, with a clear advantage in those mice receiving neonatal as compared with adult intervention. Thus, we generated a renewable source of ARSA-overexpressing iPSC-derived bona fide hNSCs with improved features compared with clinically approved hfNSCs. Patient-specific ARSA-overexpressing hiPS-NSCs may be used in autologous ex vivo gene therapy protocols to provide long-lasting enzymatic supply in MLD-affected brains. Stem Cells Translational Medicine 2017;6:352-368.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{lizier_fusion_2016,

title = {Fusion between cancer cells and macrophages occurs in a murine model of spontaneous neu+ breast cancer without increasing its metastatic potential},

author = {Michela Lizier and Achille Anselmo and Stefano Mantero and Francesca Ficara and Marianna Paulis and Paolo Vezzoni and Franco Lucchini and Giovanni Pacchiana},

doi = {10.18632/oncotarget.11508},

issn = {1949-2553},

year  = {2016},

date = {2016-09-01},

journal = {Oncotarget},

volume = {7},

number = {38},

pages = {60793--60806},

abstract = {Cell fusion between neoplastic and normal cells has been suggested to play a role in the acquisition of a malignant phenotype. Several studies have pointed to the macrophage as the normal partner in this fusion, suggesting that the fused cells could acquire new invasive properties and become able to disseminate to distant organs. However, this conclusion is mainly based on studies with transplantable cell lines. We tested the occurrence of cell fusion in the MMTV-neu model of mouse mammary carcinoma. In the first approach, we generated aggregation chimeras between GFP/neu and RFP/neu embryos. Tumor cells would display both fluorescent proteins only if cell fusion with normal cells occurred. In addition, if cell fusion conferred a growth/dissemination advantage, cells with both markers should be detectable in lung metastases at increased frequency. We confirmed that fused cells are present at low but consistent levels in primary neoplasms and that the macrophage is the normal partner in the fusion events. Similar results were obtained using a second approach in which bone marrow from mice carrying the Cre transgene was transplanted into MMTV-neu/LoxP-tdTomato transgenic animals, in which the Tomato gene is activated only in the presence of CRE recombinase. However, no fused cells were detected in lung metastases in either model. We conclude that fusion between macrophages and tumor cells does not confer a selective advantage in our spontaneous model of breast cancer, although these data do not rule out a possible role in models in which an inflammation environment is prominent.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{paulis_chromosome_2015,

title = {Chromosome transplantation as a novel approach for correcting complex genomic disorders},

author = {Marianna Paulis and Alessandra Castelli and Lucia Susani and Michela Lizier and Irina Lagutina and Maria Luisa Focarelli and Camilla Recordati and Paolo Uva and Francesca Faggioli and Tui Neri and Eugenio Scanziani and Cesare Galli and Franco Lucchini and Anna Villa and Paolo Vezzoni},

doi = {10.18632/oncotarget.6143},

issn = {1949-2553},

year  = {2015},

date = {2015-11-01},

journal = {Oncotarget},

volume = {6},

number = {34},

pages = {35218--35230},

abstract = {Genomic disorders resulting from large rearrangements of the genome remain an important unsolved issue in gene therapy. Chromosome transplantation, defined as the perfect replacement of an endogenous chromosome with a homologous one, has the potential of curing this kind of disorders. Here we report the first successful case of chromosome transplantation by replacement of an endogenous X chromosome carrying a mutation in the Hprt genewith a normal one in mouse embryonic stem cells (ESCs), correcting the genetic defect. The defect was also corrected by replacing the Y chromosome with an X chromosome. Chromosome transplanted clones maintained in vitro and in vivo features of stemness and contributed to chimera formation. Genome integrity was confirmed by cytogenetic and molecular genome analysis. The approach here proposed, with some modifications, might be used to cure various disorders due to other X chromosome aberrations in induced pluripotent stem (iPS) cells derived from affected patients.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{neri_targeted_2015,

title = {Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts},

author = {Tui Neri and Sharon Muggeo and Marianna Paulis and Maria Elena Caldana and Laura Crisafulli and Dario Strina and Maria Luisa Focarelli and Francesca Faggioli and Camilla Recordati and Samantha Scaramuzza and Eugenio Scanziani and Stefano Mantero and Chiara Buracchi and Cristina Sobacchi and Angelo Lombardo and Luigi Naldini and Paolo Vezzoni and Anna Villa and Francesca Ficara},

doi = {10.1016/j.stemcr.2015.08.005},

issn = {2213-6711},

year  = {2015},

date = {2015-10-01},

journal = {Stem Cell Reports},

volume = {5},

number = {4},

pages = {558--568},

abstract = {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 by the need for a matched donor. The use of induced pluripotent stem cells (iPSCs) as an unlimited source of autologous cells to generate gene corrected osteoclasts might represent a powerful alternative. We generated iPSCs from oc/oc mice, corrected the mutation using a BAC carrying the entire Tcirg1 gene locus as a template for homologous recombination, and induced hematopoietic differentiation. Similarly to physiologic fetal hematopoiesis, iPSC-derived CD41(+) cells gradually gave rise to CD45(+) cells, which comprised both mature myeloid cells and high proliferative potential colony-forming cells. Finally, we differentiated the gene corrected iPSC-derived myeloid cells into osteoclasts with rescued bone resorbing activity. These results are promising for a future translation into the human clinical setting.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}