A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia

Neurobiology of Disease

Volumn 22, Issue 2, 2006, Pages 401-403

  Malkani, Roneil ^a   D'Souza, Ian ^b,c   Gwinn Hardy, Katrina ^d   Schellenberg, Gerard D ^b,c,e   Hardy, John ^a   Momeni, Parastoo ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Frontotemporal dementia; MAPT; Splicing

Indexed keywords

TAU PROTEIN; MAPT PROTEIN, HUMAN; NERVE PROTEIN;

ADULT; ARTICLE; CLINICAL ARTICLE; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; INTRON; MALE; PRIORITY JOURNAL; RNA SPLICING; ANIMAL; CELL STRAIN; DEMENTIA; DISEASE COURSE; FRONTAL LOBE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; RAT; REGULATORY SEQUENCE; TEMPORAL LOBE;

ANIMALS; DEMENTIA; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRONTAL LOBE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PC12 CELLS; PEDIGREE; RATS; REGULATORY ELEMENTS, TRANSCRIPTIONAL; RNA SPLICE SITES; TAU PROTEINS; TEMPORAL LOBE;

EID: 33746206545     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nbd.2005.12.001     Document Type: Article

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