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

Acta Neuropathologica

Volumn 130, Issue 4, 2015, Pages 511-523

  Clayton, Emma L ^a   Mizielinska, Sarah ^a   Edgar, James R ^b   Nielsen, Troels Tolstrup ^c   Marshall, Sarah ^a   Norona, Frances E ^a   Robbins, Miranda ^a   Damirji, Hana ^a   Holm, Ida E ^d,e   Johannsen, Peter ^c   Nielsen, Jørgen E ^c,f   Asante, Emmanuel A ^a   Collinge, John ^a   Isaacs, Adrian M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d RANDERS REGIONAL HOSPITAL   (Denmark)

^e AARHUS UNIVERSITY   (Denmark)

^f UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

CHMP2B; ESCRT; FTD; Lysosomal storage disorder; Lysosome

Indexed keywords

CATHEPSIN D; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; MULTIVESICULAR BODY PROTEIN 2B; PROTEIN; UNCLASSIFIED DRUG; CHMP2B PROTEIN, HUMAN; CHMP2B PROTEIN, MOUSE; ESCRT PROTEIN; NERVE PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM; ELECTRON MICROSCOPY; FRONTAL CORTEX; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ASSOCIATION; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; LYSOSOME STORAGE DISEASE; MICROGLIA; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; STRUCTURE ANALYSIS; THALAMUS; ULTRASTRUCTURE; AGED; ANIMAL; BRAIN; DISEASE COURSE; DISEASE MODEL; FEMALE; GENETICS; HUMAN; LYSOSOME; MALE; METABOLISM; MIDDLE AGED; MUTATION; NERVE CELL; PATHOLOGY; PROTEIN MULTIMERIZATION; TRANSGENIC MOUSE; VERY ELDERLY;

AGED; AGED, 80 AND OVER; ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; ENDOSOMAL SORTING COMPLEXES REQUIRED FOR TRANSPORT; FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; LYSOSOMES; MALE; MICE, TRANSGENIC; MICROGLIA; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; NEURONS; PROTEIN MULTIMERIZATION;

EID: 84941348580     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-015-1475-3     Document Type: Article

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