Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment

Human Mutation

Volumn 27, Issue 9, 2006, Pages 888-896

  Theuns, J ^a,b   Marjaux, E ^a,c   Vandenbulcke, M ^d   Van Laere, K ^d   Kumar Singh, S ^a,b   Bormans, G ^d   Brouwers, N ^a,b   Van Den Broeck, M ^a,b   Vennekens, K ^a,b   Corsmit, E ^a,b   Cruts, M ^a,b   De Strooper, B ^a,c   Van Broeckhoven, C ^a,b   Vandenberghe, R ^d  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Alzheimer disease; Amyloid PET imaging; Amyloid precursor protein; APP K724N; Increased A 42 40

Indexed keywords

AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; AMYLOID PRECURSOR PROTEIN; COMPLEMENTARY DNA;

ADULT; ALZHEIMER DISEASE; ARTICLE; BRAIN CORTEX; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CYTOSOL; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; HUMAN; IN VITRO STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN PROCESSING; SEQUENCE ANALYSIS;

AGED; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; ANIMALS; BELGIUM; BRAIN; CELL LINE; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; HUMANS; MALE; MICE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POSITRON-EMISSION TOMOGRAPHY; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, PROTEIN;

EID: 33748368729     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20402     Document Type: Article

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