Lucia Susani

@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{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{palagano_synonymous_2017,

title = {Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis},

author = {Eleonora Palagano and Lucia Susani and Ciro Menale and Ugo Ramenghi and Massimo Berger and Paolo Uva and Manuela Oppo and Paolo Vezzoni and Anna Villa and Cristina Sobacchi},

doi = {10.1002/jbmr.2929},

issn = {1523-4681},

year  = {2017},

date = {2017-01-01},

journal = {Journal of Bone and Mineral Research: The Official Journal of the American Society for Bone and Mineral Research},

volume = {32},

number = {1},

pages = {99--105},

abstract = {Autosomal recessive osteopetroses (AROs) are rare, genetically heterogeneous skeletal diseases with increased bone density that are often lethal if left untreated. A precise molecular classification is relevant for the patient's management, because in some subgroups hematopoietic stem cell transplantation (HSCT), which is the only curative therapy, is contraindicated. In two unrelated ARO patients, the molecular analysis revealed the presence of a synonymous variant in known ARO genes, namely in the TCIRG1 gene in one patient and in the CLCN7 in the other patient, predicted to impact on the splicing process. In the latter case, sequencing of the transcript confirmed the splicing defect, whereas in the former, for whom an RNA sample was not available, the defect was reconstructed in vitro by the minigene technology. These results strongly suggest that these synonymous changes were responsible for the disease in our patients. Our findings are novel with respect to ARO and add to the few reports in literature dealing with different diseases, underlining the importance of cDNA analysis for the correct assessment of exonic changes, even when exome sequencing is performed. In particular, we highlight the possibility that at least in some cases ARO is due to synonymous changes, erroneously considered clinically silent, in the genes already described in literature, and suggest carefully reevaluating the sequencing results of these genes when mutations are not found at a first analysis. In addition, with respect to the CLCN7 gene, we suggest that synonymous variants might also contribute to the large spectrum of severity typical of CLCN7-dependent osteopetrosis through more subtle, but not negligible, effects on protein availability and functionality. textcopyright 2016 American Society for Bone and Mineral Research.},

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{pmid18996922,

title = {Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to ĐNA},

author = {E Revenkova and M L Focarelli and L Susani and M Paulis and M T Bassi and L Mannini and A Frattini and D Delia and I Krantz and P Vezzoni and R Jessberger and A Musio},

year  = {2009},

date = {2009-02-01},

journal = {Hum Mol Genet},

volume = {18},

number = {3},

pages = {418--427},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid15300850,

title = {ŦCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA},

author = {L Susani and A Pangrazio and C Sobacchi and A Taranta and G Mortier and R Savarirayan and A Villa and P Orchard and P Vezzoni and A Albertini and A Frattini and F Pagani},

year  = {2004},

date = {2004-09-01},

journal = {Hum Mutat},

volume = {24},

number = {3},

pages = {225--235},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid14584882,

title = {Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis},

author = {A Frattini and A Pangrazio and L Susani and C Sobacchi and M Mirolo and M Abinun and M Andolina and A Flanagan and E M Horwitz and E Mihci and L D Notarangelo and U Ramenghi and A Teti and J Van Hove and D Vujic and T Young and A Albertini and P J Orchard and P Vezzoni and A Villa},

year  = {2003},

date = {2003-01-01},

journal = {J Bone Miner Res},

volume = {18},

number = {10},

pages = {1740--1747},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12077301,

title = {Đome formation in cell cultures as expression of an early stage of lactogenic differentiation of the mammary gland},

author = {I Zucchi and L Bini and D Albani and R Valaperta and S Liberatori and R Raggiaschi and C Montagna and L Susani and O Barbieri and V Pallini and P Vezzoni and R Dulbecco},

year  = {2002},

date = {2002-06-01},

journal = {Proc Natl Acad Sci U S A},

volume = {99},

number = {13},

pages = {8660--8665},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid11331746,

title = {Proteomic dissection of dome formation in a mammary cell line: role of tropomyosin-5b and maspin},

author = {I Zucchi and L Bini and R Valaperta and A Ginestra and D Albani and L Susani and J C Sanchez and S Liberatori and B Magi and R Raggiaschi and D F Hochstrasser and V Pallini and P Vezzoni and R Dulbecco},

year  = {2001},

date = {2001-05-01},

journal = {Proc Natl Acad Sci U S A},

volume = {98},

number = {10},

pages = {5608--5613},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid10570147,

title = {Genetic dissection of dome formation in a mammary cell line: identification of two genes with opposing action},

author = {I Zucchi and C Montagna and L Susani and R Montesano and M Affer and S Zanotti and E Redolfi and P Vezzoni and R Dulbecco},

year  = {1999},

date = {1999-11-01},

journal = {Proc Natl Acad Sci U S A},

volume = {96},

number = {24},

pages = {13766--13770},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid9448288,

title = {Ŧhe rat gene homologous to the human gene 9-27 is involved in the development of the mammary gland},

author = {I Zucchi and C Montagna and L Susani and P Vezzoni and R Dulbecco},

year  = {1998},

date = {1998-02-01},

journal = {Proc Natl Acad Sci U S A},

volume = {95},

number = {3},

pages = {1079--1084},

keywords = {},

pubstate = {published},

tppubtype = {article}

}