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A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.

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作者单位: Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. [1] Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. [2] Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; United Kingdom Dementia Research Institute Centre, King's College London, London, UK. [3] Medical Genetics Institute, Department of Obstetrics & Gynecology, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel. [4] Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. [5] Hereditary Research Laboratory, Bethlehem University, Jerusalem, Israel. [6] Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. [7] Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia. [8] Department of Biostatistics and Health Informatics, King's College London, London, UK. [9] Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK. [10] Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel. Electronic address: bradley.smith@kcl.ac.uk. [11]
DOI 10.1016/j.neurobiolaging.2021.05.009
PMID 34272080
发布时间 2023-03-15
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