TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism.

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作者： Estrella,Gómez-Tortosa ^[1] ; Yalda,Baradaran-Heravi ^[2] ; Lubina,Dillen ^[3] ; Nila Roy,Choudhury ^[2] ; Pablo,Agüero Rabes ^[3] ; Julián,Pérez-Pérez ^[4] ; Cemile,Kocoglu ^[1] ; M José,Sainz ^[5] ; Alicia,Ruiz González ^[2] ; Raquel,Téllez ^[3] ; Lucía,Cremades-Jimeno ^[1] ; Blanca,Cárdaba ^[6] ; EU EOD Consortium ^[7] ; Christine,Van Broeckhoven ^[7] ; Gracjan,Michlewski ^[7] ; Julie,van der Zee ^[1]

作者单位： Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain. ^[1] Neurodegenerative Brain Diseases, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. ^[2] Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. ^[3] Infection Medicine, University of Edinburgh, The Chancellor's Building, Edinburgh, UK. ^[4] Secugen S.L, Madrid, Spain. ^[5] Alzheimer's Centre Reina Sofía-CIEN Foundation-ISCIII, Madrid, Spain. ^[6] Department of Immunology, Fundación Jiménez Díaz, Madrid, Spain. ^[7] Dioscuri Centre for RNA-Protein Interactions in Human Health and Disease, International Institute of Molecular and Cell Biology in Warsaw, Warsaw, Poland. ^[8]

关键词 Alzheimer's disease E3 ubiquitin ligase TRIM25 early-onset autosomal dominant dementia family-based whole-exome sequencing study