National Center of Neurology and Psychiatry 4 articles published in JoVE Medicine Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides Joel Z. Nordin*1, Yoshitaka Mizobe*1, Harumasa Nakamura2, Hirofumi Komaki3, Shin'ichi Takeda1, Yoshitsugu Aoki1 1Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 2Clinical Research Support Office, Translational Medical Center, National Center of Neurology and Psychiatry, 3Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry Here, we present the molecular characterization of dystrophin 38 expression using Sanger sequencing, RT-PCR, and western blotting in the clinical trial. Genetics Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells Hotake Takizawa1, Mitsuto Sato1, Yoshitsugu Aoki1 1Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry In this article, we describe a detailed protocol for efficient modelling of Duchenne muscular dystrophy muscle using MYOD1-converted urine-derived cells to evaluate the restoration of dystrophin mRNA and protein levels after exon skipping. Neuroscience Chronic Implantation of Whole-cortical Electrocorticographic Array in the Common Marmoset Misako Komatsu1, Takaaki Kaneko2,3, Hideyuki Okano2,3, Noritaka Ichinohe1,4 1Laboratory for Molecular Analysis of Higher Brain Function, RIKEN Center for Brain Science, 2Laboratory for Marmoset Neural Architecture, RIKEN Center for Brain Science, 3Department of Physiology, Keio University School of Medicine, 4Department of Ultrastructural Research, National Center of Neurology and Psychiatry We have developed a whole-cortical electrocorticographic array for the common marmoset that continuously covers almost the entire lateral surface of cortex, from the occipital pole to the temporal and frontal poles. This protocol describes a chronic implantation procedure of the array in the epidural space of the marmoset brain. Medicine Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy Bailey Miskew Nichols*1, Yoshitsugu Aoki*2, Mutsuki Kuraoka2, Joshua J.A. Lee1, Shin'ichi Takeda2, Toshifumi Yokota1 1Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, 2Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry Exon skipping is currently a most promising therapeutic option for Duchenne muscular dystrophy (DMD). To expand the applicability for DMD patients and to optimize the stability/function of the resulting truncated dystrophin proteins, a multi-exon skipping approach using cocktail antisense oligonucleotides was developed and we demonstrated systemic dystrophin rescue in a dog model.
