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Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome
Affiliation:1. Neurodegeneration Imaging Group, Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King''s College London, United Kingdom;2. School of Psychology and Cardiff University Brain Research Imaging Centre, Cardiff University, United Kingdom;3. Division of Neuroscience & Experimental Psychology, University of Manchester, United Kingdom;4. Invicro London, Hammersmith Hospital, London, United Kingdom;5. Department of Neuroimaging, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King''s College London, United Kingdom;6. Division of Brain Sciences, Imperial College London, Hammersmith Hospital, London, United Kingdom;7. Sobell Department of Motor Neuroscience, UCL Institute of Neurology, London, United Kingdom;1. Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia;2. Institute of Clinical Neurophysiology, Division of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia;3. Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King''s Health Partners, King''s College London, London, UK;4. Department of Biotechnology, Jo?ef ?tefan Institute, Ljubljana, Slovenia;5. Biomedical Research Institute, Ljubljana, Slovenia;6. Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
Abstract:
Keywords:Atypical parkinsonism  DCTN1  Dynactin  Genetics  Perry disease  Perry syndrome  Microtubules  Type 2 respiratory failure  Autophagy  Nocturnal hypopnea  p150(Glued)  Protein stability  Predicted folding free energy  Protein modeling  Microtubule associated protein RP/EB family member 1  EB1
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