Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired

Affiliations

• ¹ Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milano, Lombardia, Italy.
• ² Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Lombardia, Italy.
• ³ Department of Chemistry and Biochemistry, University of Bern, Bern, Switzerland.
• ⁴ Department of Neuroscience, Unit of Neuromuscolar and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
• ⁵ Department Biomedical Sciences for Health, University of Milan, Milano, Lombardia, Italy.
• ⁶ NEuroMuscular Omnicentre (NEMO), ASST Grande Ospedale Metropolitano Niguarda, Fondazione Serena Onlus, Milan, Italy.
• ⁷ NEMO SUD Clinical Centre for Neuromuscular Disorders, Messina, Italy.
• ⁸ Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
• ⁹ Child Neurology Unit, Pediatric Hospital A. Meyer, Florence, Italy.
• ¹⁰ Department of Child Neuropsychiatry, Children's Hospital G. Salesi -University of Ancona, Ancona, Italy.
• ¹¹ Institute of Genomic Medicine, Università Cattolica del Sacro Cuore Fondazione, Policlinico Universitario Agostino Gemelli, Roma, Lazio, Italy.
• ¹² Neuromuscular and rare diseases unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Lombardia, Italy.
• ¹³ Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Lombardia, Italy [email protected].