Laura Crisafulli

@article{pmid33284104,

title = {Cohesin mutations are synthetic lethal with stimulation of WNŦ signaling},

author = {C V Chin and J Antony and S Ketharnathan and A Labudina and G Gimenez and K M Parsons and J He and A J George and M M Pallotta and A Musio and A Braithwaite and P Guilford and R D Hannan and J A Horsfield},

year  = {2020},

date = {2020-01-01},

journal = {Elife},

volume = {9},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31704779,

title = {Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach},

author = {P Sarogni and M M Pallotta and A Musio},

year  = {2020},

date = {2020-01-01},

journal = {J Med Genet},

volume = {57},

number = {5},

pages = {289--295},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30823889,

title = {Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development},

author = {P Sarogni and O Palumbo and A Servadio and S Astigiano and B DÁlessio and V Gatti and D Cukrov and S Baldari and M M Pallotta and P Aretini and F DellÓrletta and S Soddu and M Carella and G Toietta and O Barbieri and G Fontanini and A Musio},

year  = {2019},

date = {2019-03-01},

journal = {J Exp Clin Cancer Res},

volume = {38},

number = {1},

pages = {108},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31699974,

title = {p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway},

author = {C Contadini and L Monteonofrio and I Virdia and A Prodosmo and D Valente and L Chessa and A Musio and L L Fava and C Rinaldo and G Di Rocco and S Soddu},

year  = {2019},

date = {2019-01-01},

journal = {Cell Death Dis},

volume = {10},

number = {11},

pages = {850},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid29165708,

title = {Separase prevents genomic instability by controlling replication fork speed},

author = {F Cucco and E Palumbo and S Camerini and B DÁlessio and V Quarantotti and M L Casella and I M Rizzo and D Cukrov and D Delia and A Russo and M Crescenzi and A Musio},

year  = {2018},

date = {2018-01-01},

journal = {Nucleic Acids Res},

volume = {46},

number = {1},

pages = {267--278},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid26778495,

title = {A role for Separase in telomere protection},

author = {F Cipressa and P Morciano and G Bosso and L Mannini and A Galati and G D Raffa and S Cacchione and A Musio and G Cenci},

year  = {2016},

date = {2016-01-01},

journal = {Nat Commun},

volume = {7},

pages = {10405},

abstract = {Drosophila telomeres are elongated by transposition of specialized retroelements rather than telomerase activity and are assembled independently of the sequence. Fly telomeres are protected by the terminin complex that localizes and functions exclusively at telomeres and by non-terminin proteins that do not serve telomere-specific functions. We show that mutations in the Drosophila Separase encoding gene Sse lead not only to endoreduplication but also telomeric fusions (TFs), suggesting a role for Sse in telomere capping. We demonstrate that Separase binds terminin proteins and HP1, and that it is enriched at telomeres. Furthermore, we show that loss of Sse strongly reduces HP1 levels, and that HP1 overexpression in Sse mutants suppresses TFs, suggesting that TFs are caused by a HP1 diminution. Finally, we find that siRNA-induced depletion of ESPL1, the Sse human orthologue, causes telomere dysfunction and HP1 level reduction in primary fibroblasts, highlighting a conserved role of Separase in telomere protection.},

note = {[PubMed Central:hrefhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735636PMC4735636] [DOI:hrefhttps://dx.doi.org/10.1038/ncomms1040510.1038/ncomms10405] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/2677849526778495]},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid26110528,

title = {AKŦIP/Ft1, a New Shelterin-Interacting Factor Required for Ŧelomere Maintenance},

author = {R Burla and M Carcuro and G D Raffa and A Galati and D Raimondo and A Rizzo and M La Torre and E Micheli and L Ciapponi and G Cenci and E Cundari and A Musio and A Biroccio and S Cacchione and M Gatti and I Saggio},

year  = {2015},

date = {2015-06-01},

journal = {PLoS Genet.},

volume = {11},

number = {6},

pages = {e1005167},

abstract = {Telomeres are nucleoprotein complexes that protect the ends of linear chromosomes from incomplete replication, degradation and detection as DNA breaks. Mammalian telomeres are protected by shelterin, a multiprotein complex that binds the TTAGGG telomeric repeats and recruits a series of additional factors that are essential for telomere function. Although many shelterin-associated proteins have been so far identified, the inventory of shelterin-interacting factors required for telomere maintenance is still largely incomplete. Here, we characterize AKTIP/Ft1 (human AKTIP and mouse Ft1 are orthologous), a novel mammalian shelterin-bound factor identified on the basis of its homology with the Drosophila telomere protein Pendolino. AKTIP/Ft1 shares homology with the E2 variant ubiquitin-conjugating (UEV) enzymes and has been previously implicated in the control of apoptosis and in vesicle trafficking. RNAi-mediated depletion of AKTIP results in formation of telomere dysfunction foci (TIFs). Consistent with these results, AKTIP interacts with telomeric DNA and binds the shelterin components TRF1 and TRF2 both in vivo and in vitro. Analysis of AKTIP- depleted human primary fibroblasts showed that they are defective in PCNA recruiting and arrest in the S phase due to the activation of the intra S checkpoint. Accordingly, AKTIP physically interacts with PCNA and the RPA70 DNA replication factor. Ft1-depleted p53-/- MEFs did not arrest in the S phase but displayed significant increases in multiple telomeric signals (MTS) and sister telomere associations (STAs), two hallmarks of defective telomere replication. In addition, we found an epistatic relation for MST formation between Ft1 and TRF1, which has been previously shown to be required for replication fork progression through telomeric DNA. Ch-IP experiments further suggested that in AKTIP-depleted cells undergoing the S phase, TRF1 is less tightly bound to telomeric DNA than in controls. Thus, our results collectively suggest that AKTIP/Ft1 works in concert with TRF1 to facilitate telomeric DNA replication.},

note = {[PubMed Central:hrefhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481533PMC4481533] [DOI:hrefhttps://dx.doi.org/10.1371/journal.pgen.100516710.1371/journal.pgen.1005167] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/2611052826110528]},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid25669433,

title = {Proliferation of Multiple Cell Ŧypes in the Skeletal Muscle Ŧissue Elicited by Acute p21 Suppression},

author = {M G Biferi and C Nicoletti and G Falcone and E M R Puggioni and N Passaro and A Mazzola and D Pajalunga and G Zaccagnini and E Rizzuto and A Auricchio and L Zentilin and G De Luca and M Giacca and F Martelli and A Musio and A Musarò and M Crescenzi},

year  = {2015},

date = {2015-05-01},

journal = {Mol Ther},

volume = {23},

number = {5},

pages = {885--895},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid23167636,

title = {Cytogenetic analysis of human cells reveals specific patterns of ĐNA damage in replicative and oncogene-induced senescence},

author = {G Falcone and A Mazzola and F Michelini and G Bossi and F Censi and M G Biferi and L Minghetti and G Floridia and M Federico and A Musio and M Crescenzi},

year  = {2013},

date = {2013-01-01},

volume = {12},

number = {2},

pages = {312--315},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid17273969,

title = {Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation},

author = {M A Deardorff and M Kaur and D Yaeger and A Rampuria and S Korolev and J Pie and C Gil-Rodríguez and M Arnedo and B Loeys and A D Kline and M Wilson and K Lillquist and V Siu and F J Ramos and A Musio and L S Jackson and D Dorsett and I D Krantz},

year  = {2007},

date = {2007-03-01},

volume = {80},

number = {3},

pages = {485--494},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid16604071,

title = {X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations},

author = {A Musio and A Selicorni and M L Focarelli and C Gervasini and D Milani and S Russo and P Vezzoni and L Larizza},

year  = {2006},

date = {2006-05-01},

journal = {Nat Genet},

volume = {38},

number = {5},

pages = {528--530},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12782591,

title = {Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts},

author = {A Musio and C Montagna and D Zambroni and E Indino and O Barbieri and L Citti and A Villa and T Ried and P Vezzoni},

year  = {2003},

date = {2003-06-01},

journal = {Cancer Res},

volume = {63},

number = {11},

pages = {2855--2863},

keywords = {},

pubstate = {published},

tppubtype = {article}

}