Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1

Genes Dis. 2023 Jul 13;11(3):101028. doi: 10.1016/j.gendis.2023.05.020. eCollection 2024 May.

Sofian Al Wardat¹, Loredana Frassinelli¹, Elisa Orecchini¹, Federica Rey^{2

3}, Silvia Anna Ciafrè¹, Silvia Galardi¹, Jessica Garau⁴, Stella Gagliardi⁴, Simona Orcesi⁴, Davide Tonduti⁵, Stephana Carelli^{2

3}, Cristina Cereda³, Ernesto Picardi^{6

7

8}, Alessandro Michienzi¹

¹ Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy.
² Pediatric Clinical Research Center "Romeo ed Enrica Invernizzi", Department of Biomedical and Clinical Sciences, University of Milano, Milano 20157, Italy.
³ Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milano 20154, Italy.
⁴ Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia 27100, Italy.
⁵ Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), Buzzi Children's Hospital, Milano 20154, Italy.
⁶ Department of Biosciences, Biotechnologies and Environment, University of Bari "Aldo Moro", Bari 70125, Italy.
⁷ Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies (IBIOM), National Research Council (CNR), Bari 70126, Italy.
⁸ Biostructures and Biosystems National Institute (INBB), Rome 00136, Italy.

No abstract available