Novel T719P AβPP mutation unbalances the relative proportion of amyloid-β peptides

Journal of Alzheimer's Disease

Volumn 18, Issue 2, 2009, Pages 295-303

  Ghidoni, Roberta ^a   Albertini, Valentina ^a   Squitti, Rosanna ^a,b   Paterlini, Anna ^a   Bruno, Anna ^a   Bernardini, Silvia ^b,c   Cassetta, Emanuele ^a   Rossini, Paolo Maria ^b,c   Squitieri, Ferdinando ^d   Benussi, Luisa ^a   Binetti, Giuliano ^a  

^a IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^b UNIVERSITY CAMPUS BIO MEDICO   (Italy)

^c IRCCS SAN RAFFAELE PISANA   (Italy)

^d IRCCS NEUROMED   (Italy)

Author keywords

Amyloid protein precursor (A PP) transmembrane domain; Cleavage site at A 48 ; Familial Alzheimer's disease (FAD); N and C terminally truncated amyloid peptides; Presenilins; secretase; cleavage

Indexed keywords

AMYLOID BETA PROTEIN[1-40]; AMYLOID PRECURSOR PROTEIN; PRESENILIN 1; PRESENILIN 2; AMYLOID BETA PROTEIN; PEPTIDE FRAGMENT; THREONINE; TYROSINE;

ADULT; ALZHEIMER DISEASE; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CEREBROSPINAL FLUID; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENOTYPE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CLEAVAGE; PROTEOMICS; SURFACE ENHANCED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; GENETICS; MASS SPECTROMETRY; METABOLISM; METHODOLOGY; MIDDLE AGED; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY;

ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; AMYLOID BETA-PROTEIN PRECURSOR; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUTATION; PEPTIDE FRAGMENTS; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; THREONINE; TYROSINE;

EID: 70350507098     PISSN: 13872877     EISSN: None     Source Type: Journal    
DOI: 10.3233/JAD-2009-1142     Document Type: Article

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