Antonio Musio

Senior Researcher

Area of interest:

Dr. Musio is a cell and molecular biologist. His research interests are focused on identifying and characterizing the molecular etiopathology of syndromic developmental disorders, such as Cornelia de Lange syndrome, Coffin-Siris syndrome, and Mosaic Variegated Aneuploidy syndrome. Toward this end, his laboratory has identified new disease genes and investigated the perturbated pathways in these diseases.  His laboratory is also interested in understanding the role of genomic instability and associated gene expression changes during cancer development. To this aim, we study models of human tumorigenesis and relevant mouse models with a variety of genomic technologies, including next generation sequencing, gene expression profiling, quantitative real-time PCR and proteomic methodologies.  Dr. Musio’s laboratory has a strong commitment to translate their basic research findings to improve early cancer detection, prognostication, and treatment.

Notable career accomplishments:

  • Disease gene identification in Cornelia de Lange syndrome
  • Establishment of the Cohesinopathies laboratory, belonging to the Rare Diseases Network, at the Italian National Research Council

Most significant publications:


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

Cohesin mutations are synthetic lethal with stimulation of WNŦ signaling Journal Article

In: Elife, 9 , 2020.


Sarogni, P; Pallotta, M M; Musio, A

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach Journal Article

In: J Med Genet, 57 (5), pp. 289–295, 2020.



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

Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development Journal Article

In: J Exp Clin Cancer Res, 38 (1), pp. 108, 2019.


Contadini, C; Monteonofrio, L; Virdia, I; Prodosmo, A; Valente, D; Chessa, L; Musio, A; Fava, L L; Rinaldo, C; Rocco, G Di; Soddu, S

p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway Journal Article

In: Cell Death Dis, 10 (11), pp. 850, 2019.



Cucco, F; Palumbo, E; Camerini, S; DÁlessio, B; Quarantotti, V; Casella, M L; Rizzo, I M; Cukrov, D; Delia, D; Russo, A; Crescenzi, M; Musio, A

Separase prevents genomic instability by controlling replication fork speed Journal Article

In: Nucleic Acids Res, 46 (1), pp. 267–278, 2018.



Cipressa, F; Morciano, P; Bosso, G; Mannini, L; Galati, A; Raffa, G D; Cacchione, S; Musio, A; Cenci, G

A role for Separase in telomere protection Journal Article

In: Nat Commun, 7 , pp. 10405, 2016, ([PubMed Central:href] [DOI:href] [PubMed:href]).

Abstract | BibTeX


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

AKŦIP/Ft1, a New Shelterin-Interacting Factor Required for Ŧelomere Maintenance Journal Article

In: PLoS Genet., 11 (6), pp. e1005167, 2015, ([PubMed Central:href] [DOI:href] [PubMed:href]).

Abstract | BibTeX

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

Proliferation of Multiple Cell Ŧypes in the Skeletal Muscle Ŧissue Elicited by Acute p21 Suppression Journal Article

In: Mol Ther, 23 (5), pp. 885–895, 2015.



Falcone, G; Mazzola, A; Michelini, F; Bossi, G; Censi, F; Biferi, M G; Minghetti, L; Floridia, G; Federico, M; Musio, A; Crescenzi, M

Cytogenetic analysis of human cells reveals specific patterns of ĐNA damage in replicative and oncogene-induced senescence Journal Article

In: 12 (2), pp. 312–315, 2013.



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

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation Journal Article

In: 80 (3), pp. 485–494, 2007.



Musio, A; Selicorni, A; Focarelli, M L; Gervasini, C; Milani, D; Russo, S; Vezzoni, P; Larizza, L

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations Journal Article

In: Nat Genet, 38 (5), pp. 528–530, 2006.



Musio, A; Montagna, C; Zambroni, D; Indino, E; Barbieri, O; Citti, L; Villa, A; Ried, T; Vezzoni, P

Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts Journal Article

In: Cancer Res, 63 (11), pp. 2855–2863, 2003.