Genetic Dominant Variants in <i>STUB1,</i> Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.

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作者： Yasaman,Pakdaman ^[1] ; Siren,Berland ^[2] ; Helene J,Bustad ^[1] ; Sigrid,Erdal ^[3] ; Bryony A,Thompson ^[1] ; Paul A,James ^[4] ; Kjersti N,Power ^[5] ; Ståle,Ellingsen ^[6] ; Martin,Krooni ^[7] ; Line I,Berge ^[8] ; Adrienne,Sexton ^[9] ; Laurence A,Bindoff ^[10] ; Per M,Knappskog ^[11] ; Stefan,Johansson ^[10] ; Ingvild,Aukrust ^[12]

作者单位： Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway. ^[1] Department of Clinical Science, University of Bergen, 5021 Bergen, Norway. ^[2] Department of Biomedicine, University of Bergen, 5021 Bergen, Norway. ^[3] Department of Pathology, Royal Melbourne Hospital, Parkville, VIC 3050, Australia. ^[4] Department of Clinical Pathology, Melbourne Medical School, University of Melbourne, Parkville, VIC 3010, Australia. ^[5] Genomic Medicine, Royal Melbourne Hospital, Parkville, VIC 3050, Australia. ^[6] Department of Medicine, University of Melbourne, Parkville, VIC 3051, Australia. ^[7] Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway. ^[8] Department of Biological Sciences, University of Bergen, 5006 Bergen, Norway. ^[9] NKS Olaviken Gerontopsychiatric Hospital, 5306 Askøy, Norway. ^[10] Department of Health and Medical Care, Clinic of Psychiatry, Visby Hospital, 621 55 Visby, Sweden. ^[11] Centre for Elderly and Nursing Home Medicine, Department of Global Public Health and Primary Care, University of Bergen, 5009 Bergen, Norway. ^[12] Neuro-SysMed, Center of Excellence for Clinical Research in Neurological Diseases, Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway. ^[13] Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway. ^[14]

关键词 CHIP E3 ubiquitin ligase SCA48 SCAR16 STUB1 spinocerebellar ataxia