Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Aβ42 secretion

Human Molecular Genetics

Volumn 8, Issue 8, 1999, Pages 1529-1540

  De Jonghe, Chris ^a   Cruts, Marc ^a   Rogaeva, Ekaterina A ^b   Tysoe, Carolyn ^c   Singleton, Andrew ^d   Vanderstichele, Hugo ^e   Meschino, Wendy ^g   Dermaut, Bart ^a   Vanderhoeven, Inge ^a   Backhovens, Hubert ^a   Vanmechelen, Eugeen ^e   Morris, Christopher M ^d   Hardy, John ^f   Rubinsztein, David C ^c   St George Hyslop, Peter H ^b   Van Broeckhoven, Christine ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF TORONTO   (Canada)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^e INNOGENETICS   (Belgium)

^f MAYO CLINIC   (United States)

^g NORTH YORK GENERAL HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; COMPLEMENTARY DNA; MESSENGER RNA; MUTANT PROTEIN; PRESENILIN 1;

ALZHEIMER DISEASE; ANIMAL CELL; ARTICLE; BRAIN HOMOGENATE; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; LYMPHOBLAST; MAJOR CLINICAL STUDY; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN SECRETION; RNA SPLICING;

AGE OF ONSET; ALTERNATIVE SPLICING; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; AMYLOID BETA-PROTEIN; ANIMALS; BASE SEQUENCE; CELL LINE; CHO CELLS; CRICETINAE; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FAMILY HEALTH; FEMALE; GENE EXPRESSION; HUMANS; INTRONS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; PEDIGREE; PEPTIDE FRAGMENTS; PRESENILIN-1; TRANSFECTION; TUMOR CELLS, CULTURED;

ANIMALIA;

EID: 0032854745     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.8.1529     Document Type: Article

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