Marianna Paulis


Area of interest:

Marianna Paulis was graduated on Biological Sciences in 2000 at the University of Pavia, where she also obtained a PhD in Genetic and Biomolecular Sciences in 2004. During her PhD she was admitted to IUSS Advanced School for Integrated Formation (SAFI) of Pavia where she attended courses from 2000 to 2003, won a scholarship for all the three years and achieved the certificate of advanced post-graduate education. Since 2006 she have been working at the National Research Council (CNR) of Milan with a post-doctoral position within Dr. Vezzoni and Dr. A. Villa’s Unit. In 2015, she received a tenured position as Researcher (III level) at the Institute of Genetic and Biomedical Research (IRGB) of the CNR based in Milan. From 2019, she is co-head of the Stem Cell Unit of the ICH (Istituto Clinico Humanitas) in Rozzano, Milan.

She has a long lasting research experience and expertise in the field of classical and molecular cytogenetic of mammalian cells and years of experience in mouse and human pluripotent stem cells (both ESCs and iPSCs). Her main interest is in the investigation of gene therapy approaches for genome disorders due to chromosomal abnormalities. Currently, her main activity is the generation and corrections of iPSCs from patients affected by genetic diseases and in iPSC differentiation with particular interest in the generation of iPSCderived human organoids to help bridge gap between laboratory study and animal models.

Her laboratory currently counts a research fellow with experience in iPSC differentiation and a technician with experience in iPSCs, in molecular biology and CRISPR/Cas9 technology. Currently she is the IRGB-CNR coordinator in a competitive national grant regarding the study of the amyotrophic lateral sclerosis (ALS) through iPSC technology.

Dr Paulis has published 21 papers in international scientific journals for a total citation of 314 and Scopus “h” index of 12.

Most significant publications:


Paulis, M; Susani, L; Castelli, A; Suzuki, T; Hara, T; Straniero, L; Duga, S; Strina, D; Mantero, S; Caldana, E; Sergi, L S; Villa, A; Vezzoni, P

Chromosome Ŧransplantation: A Possible Approach to Ŧreat Ħuman X-linked Đisorders Journal Article

In: Mol Ther Methods Clin Dev, 17 , pp. 369–377, 2020.


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

Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons Journal Article

In: Nat Commun, 11 (1), pp. 4178, 2020.



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

Ŧhe K219Ŧ-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy Journal Article

In: Nat Commun, 10 (1), pp. 2267, 2019.


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

Motor neuron degeneration, severe myopathy and ŦĐP-43 increase in a transgenic pig model of SOĐ1-linked familiar ALS Journal Article

In: Neurobiol Dis, 124 , pp. 263–275, 2019.


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

Chromosome Ŧransplantation: Correction of the Chronic Granulomatous Đisease Đefect in Mouse Induced Pluripotent Stem Cells Journal Article

In: Stem Cells, 37 (7), pp. 876–887, 2019.



Susani, L; Castelli, A; Lizier, M; Lucchini, F; Vezzoni, P; Paulis, M

Correction of a Recessive Genetic Đefect by CRISPR-Cas9-Mediated Endogenous Repair Journal Article

In: CRISPR J, 1 , pp. 230–238, 2018.



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

Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy Journal Article

In: Stem Cells Translational Medicine, 6 (2), pp. 352–368, 2017, ISSN: 2157-6564.

Abstract | Links | BibTeX


Lizier, Michela; Anselmo, Achille; Mantero, Stefano; Ficara, Francesca; Paulis, Marianna; Vezzoni, Paolo; Lucchini, Franco; Pacchiana, Giovanni

Fusion between cancer cells and macrophages occurs in a murine model of spontaneous neu+ breast cancer without increasing its metastatic potential Journal Article

In: Oncotarget, 7 (38), pp. 60793–60806, 2016, ISSN: 1949-2553.

Abstract | Links | BibTeX


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

Chromosome transplantation as a novel approach for correcting complex genomic disorders Journal Article

In: Oncotarget, 6 (34), pp. 35218–35230, 2015, ISSN: 1949-2553.

Abstract | Links | BibTeX

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

Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts Journal Article

In: Stem Cell Reports, 5 (4), pp. 558–568, 2015, ISSN: 2213-6711.

Abstract | Links | BibTeX