Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy

Journal of Biological Chemistry

Volumn 278, Issue 9, 2003, Pages 6748-6754

  Kwok, John B J ^a   Halliday, Glenda M ^b,d   Brooks, William S ^b,d   Dolios, Georgia ^e   Laudon, Hanna ^f   Murayama, Ohoshi ^g   Hallupp, Marianne ^a   Badenhop, Renee F ^a,c   Vickers, James ^h   Wang, Rong ^e   Naslund, Jan ^f   Takashima, Akihiko ^g   Gandy, Samuel E ⁱ   Schofield, Peter R ^a,c  

^a GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f KAROLINSKA INSTITUTE   (Sweden)

^g RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^h UNIVERSITY OF TASMANIA   (Australia)

ⁱ THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; ANTIBODIES; BRAIN; DISEASES; GENES; MUTAGENESIS;

DISEASE PEDIGREE;

BIOCHEMISTRY;

AMYLOID BETA PROTEIN; PRESENILIN 1; COMPLEMENTARY DNA; GLYCOGEN SYNTHASE KINASE 3; GLYCOGEN SYNTHASE KINASE 3 BETA; ISOPROTEIN; MEMBRANE PROTEIN; PSEN1 PROTEIN, HUMAN;

ALZHEIMER DISEASE; ARTICLE; CELL SECRETION; CLINICAL ARTICLE; EXON; GENE DELETION; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN TISSUE; IMMUNOPRECIPITATION; NEUROPATHOLOGY; PRIORITY JOURNAL; PROTEIN INTERACTION; SENILE PLAQUE; SPLICEOSOME; WESTERN BLOTTING; ADULT; AGED; ANIMAL; BRAIN; CELL STRAIN COS1; DOMINANT GENE; FEMALE; GENETIC TRANSFECTION; GENETICS; MALE; MASS SPECTROMETRY; METABOLISM; MIDDLE AGED; MUTATION; NERVE CELL; PATHOLOGY; PEDIGREE; PLASMID; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SERODIAGNOSIS;

GOSSYPIUM HIRSUTUM;

ADULT; AGED; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; ANIMALS; BLOTTING, WESTERN; BRAIN; COS CELLS; DNA, COMPLEMENTARY; EXONS; FEMALE; GENE DELETION; GENES, DOMINANT; GLYCOGEN SYNTHASE KINASE 3; HUMANS; MALE; MASS SPECTROMETRY; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEURONS; PEDIGREE; PLASMIDS; PRECIPITIN TESTS; PRESENILIN-1; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; TRANSFECTION;

EID: 0037470181     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M211827200     Document Type: Article

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