TY - JOUR
T1 - Amyloid β secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease
AU - Cruts, Marc
AU - Dermaut, Bart
AU - Rademakers, Rosa
AU - Roks, Gerwin
AU - Van den Broeck, Marleen
AU - Munteanu, Gabriela
AU - Van Duijn, Cornelia M.
AU - Van Broeckhoven, Christine
N1 - Funding Information:
This work was in part funded by the Fund for Scientific Research–Flanders, Belgium (FWO-F), a special project of the University of Antwerp and a grant of the Netherlands Organization of Scientific Research (NWO). Marc Cruts is a postdoctoral fellow, and Bart Dermaut and Rosa Rademakers are Ph.D. fellows of the FWO.
PY - 2001/11/2
Y1 - 2001/11/2
N2 - The beta-site of β-amyloid precursor protein cleaving enzyme (BACE) cleaves the β-amyloid (Aβ) precursor protein at the N-terminal end of Aβ, allowing for the production of Aβ by C-terminal γ-secretase cleavage. We hypothesized that over-activity of BACE might lead to the overproduction of Aβ, hence causing Alzheimer's disease (AD). Molecular genetic analyses of BACE in 9 autosomal dominant AD families and a population-based sample of 101 presenile AD cases did not identify genetic linkage, pathogenic mutations or genetic association with BACE, suggesting that BACE is not genetically involved in the etiology of AD.
AB - The beta-site of β-amyloid precursor protein cleaving enzyme (BACE) cleaves the β-amyloid (Aβ) precursor protein at the N-terminal end of Aβ, allowing for the production of Aβ by C-terminal γ-secretase cleavage. We hypothesized that over-activity of BACE might lead to the overproduction of Aβ, hence causing Alzheimer's disease (AD). Molecular genetic analyses of BACE in 9 autosomal dominant AD families and a population-based sample of 101 presenile AD cases did not identify genetic linkage, pathogenic mutations or genetic association with BACE, suggesting that BACE is not genetically involved in the etiology of AD.
KW - Alzheimer's disease
KW - BACE
KW - β-amyloid
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UR - http://www.scopus.com/inward/citedby.url?scp=0035798269&partnerID=8YFLogxK
U2 - 10.1016/S0304-3940(01)02234-0
DO - 10.1016/S0304-3940(01)02234-0
M3 - Article
C2 - 11684351
AN - SCOPUS:0035798269
VL - 313
SP - 105
EP - 107
JO - Neuroscience Letters
JF - Neuroscience Letters
SN - 0304-3940
IS - 1-2
ER -