Cristina Sobacchi


Area of interest:

Dr Cristina Sobacchi graduated in Pharmaceutical Chemistry and Technologies, University of Milan (1998), with a Training in Molecular Biology. She is CNR Tenured Researcher since 2010, and Junior Principal Investigator at the Humanitas Clinical and Research Center (Milan, Italy).

Her main interest are molecular and cellular mechanisms involved in bone pathophysiology. She contributed to identifying several genes responsible for human osteopetrosis. She has also carried out different studies aimed at the development of new therapies for osteopetrosis in animal models, by using pharmacological, cell-based and gene therapy approaches. Specifically, she has a longstanding interest in the investigation of bone pathophysiological mechanisms and therapies related to RANKL cytokine.

Another recent topic of her research is the role of oxidative stress in bone pathophysiology.

She is Member of the European Calcified Tissue Society (ECTS), where she has been actively serving in different Committees, and Member of the Forum in Bone and Mineral Research. She has been invited speaker to several National and International Scientific Meetings in the field.

She is coauthor of 69 papers in peer-reviewed journals in which she features mainly as first or last author.

Most significant publications:


Zanni, E Di; Palagano, E; Lagostena, L; Strina, D; Rehman, A; Abinun, M; Somer, L De; Martire, B; Brown, J; Kariminejad, A; Balasubramaniam, S; Baynam, G; Gurrieri, F; Pisanti, M A; Maggio, I De; Abboud, M R; Chiesa, R; Burren, C P; Villa, A; Sobacchi, C; Picollo, A

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Đerived From Structural and Functional Analysis of 14 ClC-7 Mutants Journal Article

In: J Bone Miner Res, 36 (3), pp. 531–545, 2021.



Menale, C; Robinson, L J; Palagano, E; Rigoni, R; Erreni, M; Almarza, A J; Strina, D; Mantero, S; Lizier, M; Forlino, A; Besio, R; Monari, M; Vezzoni, P; Cassani, B; Blair, H C; Villa, A; Sobacchi, C

Absence of Đipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss Journal Article

In: J Bone Miner Res, 34 (11), pp. 2133–2148, 2019.


Menale, C; Campodoni, E; Palagano, E; Mantero, S; Erreni, M; Inforzato, A; Fontana, E; Schena, F; Hof, R Van't; Sandri, M; Tampieri, A; Villa, A; Sobacchi, C

Mesenchymal Stromal Cell-Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl-Đeficient Osteopetrosis Journal Article

In: Stem Cells Transl Med, 8 (1), pp. 22–34, 2019.



Palagano, E; Zuccarini, G; Prontera, P; Borgatti, R; Stangoni, G; Elisei, S; Mantero, S; Menale, C; Forlino, A; Uva, P; Oppo, M; Vezzoni, P; Villa, A; Merlo, G R; Sobacchi, C

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Đysostosis type 1 Journal Article

In: Bone, 114 , pp. 125–136, 2018.



Schena, Francesca; Menale, Ciro; Caci, Emanuela; Diomede, Lorenzo; Palagano, Eleonora; Recordati, Camilla; Sandri, Monica; Tampieri, Anna; Bortolomai, Ileana; Capo, Valentina; Pastorino, Claudia; Bertoni, Arinna; Gattorno, Marco; Martini, Alberto; Villa, Anna; Traggiai, Elisabetta; Sobacchi, Cristina

Murine Rankl(-/-) Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector Journal Article

In: Stem Cells (Dayton, Ohio), 35 (5), pp. 1365–1377, 2017, ISSN: 1549-4918.

Abstract | Links | BibTeX


Palagano, Eleonora; Blair, Harry C; Pangrazio, Alessandra; Tourkova, Irina; Strina, Dario; Angius, Andrea; Cuccuru, Gianmauro; Oppo, Manuela; Uva, Paolo; Hul, Wim Van; Boudin, Eveline; Superti-Furga, Andrea; Faletra, Flavio; Nocerino, Agostino; Ferrari, Matteo C; Grappiolo, Guido; Monari, Marta; Montanelli, Alessandro; Vezzoni, Paolo; Villa, Anna; Sobacchi, Cristina

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis Journal Article

In: Journal of Bone and Mineral Research: The Official Journal of the American Society for Bone and Mineral Research, 30 (10), pp. 1814–1821, 2015, ISSN: 1523-4681.

Abstract | Links | BibTeX


Sobacchi, Cristina; Pangrazio, Alessandra; Lopez, Antonio González-Meneses; Gomez, Diego Pascual-Vaca; Caldana, Maria Elena; Susani, Lucia; Vezzoni, Paolo; Villa, Anna

As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene Journal Article

In: Journal of Bone and Mineral Research: The Official Journal of the American Society for Bone and Mineral Research, 29 (7), pp. 1646–1650, 2014, ISSN: 1523-4681.

Abstract | Links | BibTeX


Sobacchi, Cristina; Schulz, Ansgar; Coxon, Fraser P; Villa, Anna; Helfrich, Miep H

Osteopetrosis: genetics, treatment and new insights into osteoclast function Journal Article

In: Nature Reviews. Endocrinology, 9 (9), pp. 522–536, 2013, ISSN: 1759-5037.

Abstract | Links | BibTeX

Pangrazio, Alessandra; Fasth, Anders; Sbardellati, Andrea; Orchard, Paul J; Kasow, Kimberly A; Raza, Jamal; Albayrak, Canan; Albayrak, Davut; Vanakker, Olivier M; Moerloose, Barbara De; Vellodi, Ashok; Notarangelo, Luigi D; Schlack, Claire; Strauss, Gabriele; Kühl, Jörn-Sven; Caldana, Elena; Iacono, Nadia Lo; Susani, Lucia; Kornak, Uwe; Schulz, Ansgar; Vezzoni, Paolo; Villa, Anna; Sobacchi, Cristina

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity Journal Article

In: Journal of Bone and Mineral Research: The Official Journal of the American Society for Bone and Mineral Research, 28 (5), pp. 1041–1049, 2013, ISSN: 1523-4681.

Abstract | Links | BibTeX


Iacono, Nadia Lo; Blair, Harry C; Poliani, Pietro L; Marrella, Veronica; Ficara, Francesca; Cassani, Barbara; Facchetti, Fabio; Fontana, Elena; Guerrini, Matteo M; Traggiai, Elisabetta; Schena, Francesca; Paulis, Marianna; Mantero, Stefano; Inforzato, Antonio; Valaperta, Serenella; Pangrazio, Alessandra; Crisafulli, Laura; Maina, Virginia; Kostenuik, Paul; Vezzoni, Paolo; Villa, Anna; Sobacchi, Cristina

Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO Journal Article

In: Journal of Bone and Mineral Research: The Official Journal of the American Society for Bone and Mineral Research, 27 (12), pp. 2501–2510, 2012, ISSN: 1523-4681.

Abstract | Links | BibTeX


Guerrini, M M; Sobacchi, C; Cassani, B; Abinun, M; Kilic, S S; Pangrazio, A; Moratto, D; Mazzolari, E; Clayton-Smith, J; Orchard, P; Coxon, F P; Helfrich, M H; Crockett, J C; Mellis, D; Vellodi, A; Tezcan, I; Notarangelo, L D; Rogers, M J; Vezzoni, P; Villa, A; Frattini, A

Ħuman osteoclast-poor osteopetrosis with hypogammaglobulinemia due to ŦNFRSF11A (RANK) mutations Journal Article

In: 83 (1), pp. 64–76, 2008.