Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.

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第一作者： Emma L,Clayton

第一单位： Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

作者： Emma L,Clayton ^[1] ; Sarah,Mizielinska ^[1] ; James R,Edgar ^[2] ; Troels Tolstrup,Nielsen ^[3] ; Sarah,Marshall ^[1] ; Frances E,Norona ^[1] ; Miranda,Robbins ^[1] ; Hana,Damirji ^[1] ; Ida E,Holm ^[4] ; Peter,Johannsen ^[5] ; Jørgen E,Nielsen ^[6] ; Emmanuel A,Asante ^[3] ; John,Collinge ^[6] ; FReJA consortium ^[7] ; Adrian M,Isaacs ^[8]

作者单位： Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. ^[1] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK. ^[2] Neurogenetics Research Laboratory, Department of Neurology, Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. ^[3] Laboratory for Experimental Neuropathology, Department of Pathology, Randers Hospital, 8930, Randers NØ, Denmark. ^[4] Institute of Clinical Medicine, Aarhus University, 8000, Aarhus C, Denmark. ^[5] Memory Clinic, Department of Neurology, Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. ^[6] Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark. ^[7] MRC Prion Unit, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. ^[8] Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. a.isaacs@prion.ucl.ac.uk. ^[9]

关键词 CHMP2B ESCRT FTD Lysosomal storage disorder Lysosome