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

• Sofian Al Wardat,
• Loredana Frassinelli,
• Elisa Orecchini,
• Federica Rey,
• Silvia Anna Ciafrè,
• Silvia Galardi,
• Jessica Garau,
• Stella Gagliardi,
• Simona Orcesi,
• Davide Tonduti,
• Stephana Carelli,
• Cristina Cereda,
• Ernesto Picardi,
• Alessandro Michienzi

Affiliations

Sofian Al Wardat

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy

Loredana Frassinelli

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy

Elisa Orecchini

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy

Federica Rey

Pediatric Clinical Research Center “Romeo ed Enrica Invernizzi”, Department of Biomedical and Clinical Sciences, University of Milano, Milano 20157, Italy; Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milano 20154, Italy

Silvia Anna Ciafrè

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy

Silvia Galardi

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy

Jessica Garau

Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia 27100, Italy

Stella Gagliardi

Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia 27100, Italy

Simona Orcesi

Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia 27100, Italy

Davide Tonduti

Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), Buzzi Children's Hospital, Milano 20154, Italy

Stephana Carelli

Pediatric Clinical Research Center “Romeo ed Enrica Invernizzi”, Department of Biomedical and Clinical Sciences, University of Milano, Milano 20157, Italy; Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milano 20154, Italy

Cristina Cereda

Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milano 20154, Italy

Ernesto Picardi

Department of Biosciences, Biotechnologies and Environment, University of Bari “Aldo Moro”, Bari 70125, Italy; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies (IBIOM), National Research Council (CNR), Bari 70126, Italy; Biostructures and Biosystems National Institute (INBB), Rome 00136, Italy

Alessandro Michienzi

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome 00133, Italy; Corresponding author.