Dottoressa di ricerca

ciclo: XXXIV


Joubert syndrome (JS) is classified among recessive hereditary ataxias and is characterized by a peculiar cerebellar and brainstem malformation known as the “molar tooth sign” (MTS). To date, most of the identified causative genes of JS encode proteins involved in cilia function or assembly. We focused our attention on mutations in AHI1, the first gene to be associated to JS. In order to analyze how these mutations are involved in pathogenesis of JS, primary fibroblasts from two JS patients with different point mutations in AHI1 gene: c.2687A>G (p.His896Arg) and c.2168G>A (p.Arg723Gln) were used as cellular model in comparison with healthy donors. Our results show that: 1) AHI1 mutations affect ciliogenesis at morphological level; 2) AHI1 mutations affect cell cycle. In order to investigated the brain development, we reprogrammed fibroblasts in iPS cells and subsequently differentiate them in neurospheres and neuronal cells in order to investigate how the mutations in AHI1 gene could influence the formation and morphology of neurons, astrocytes and oligodendrocytes.

Produzione scientifica

11573/1603355 - 2022 - Functional outcomes of copy number variations of Chrna7 gene
Ferrari, Daniela; D'anzi, Angela; Casamassa, Alessia; Bernardini, Laura; Tata, Ada Maria; Vescovi, Angelo Luigi; Rosati, Jessica - 02a Capitolo o Articolo
libro: Novel Concepts in iPSC Disease Modeling, - ()

11573/1543830 - 2021 - Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein
D'anzi, Angela; Altieri, Filomena; Perciballi, Elisa; Ferrari, Daniela; Torres, Barbara; Bernardini, Laura; Lattante, Serena; Sabatelli, Mario; Luigi Vescovi, Angelo; Rosati, Jessica - 01a Articolo in rivista
rivista: STEM CELL RESEARCH (Amsterdam : Elsevier) pp. - - issn: 1873-5061 - wos: WOS:000663438200008 (2) - scopus: 2-s2.0-85105260869 (1)

11573/1467832 - 2020 - Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene
D'anzi, A.; Altieri, F.; Perciballi, E.; Ferrari, D.; Bernardini, L.; Goldoni, M.; Mazzini, L.; De Marchi, F.; Di Pierro, A.; D'alfonso, S.; Gelati, M.; Vescovi, A. L.; Rosati, J. - 01a Articolo in rivista
rivista: STEM CELL RESEARCH (Amsterdam : Elsevier) pp. - - issn: 1873-5061 - wos: WOS:000566517800007 (3) - scopus: 2-s2.0-85088837831 (3)

11573/1491566 - 2020 - Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene
Piceci-Sparascio, F.; Palencia-Campos, A.; Soto-Bielicka, P.; D'anzi, A.; Guida, V.; Rosati, J.; Caparros-Martin, J. A.; Torrente, I.; D'asdia, M. C.; Versacci, P.; Briuglia, S.; Lapunzina, P.; Tartaglia, M.; Marino, B.; Digilio, M. C.; Ruiz-Perez, V. L.; De Luca, A. - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL:, INTERNET:, Fax: (212)748-6551) pp. 2087-2093 - issn: 1059-7794 - wos: WOS:000577581400001 (6) - scopus: 2-s2.0-85092458649 (6)

11573/1292717 - 2019 - Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
Altieri, F.; D'anzi, Angela; Martello, F.; Tardivo, S.; Spasari, I.; Ferrari, D.; Bernardini, L.; Lamorte, G.; Mazzoccoli, G.; Valente, E. M.; Vescovi, A. L.; Rosati, J. - 01a Articolo in rivista
rivista: STEM CELL RESEARCH (Amsterdam : Elsevier) pp. - - issn: 1873-5061 - wos: WOS:000477866100026 (3) - scopus: 2-s2.0-85067073764 (3)

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