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Characterization of a mouse model overexpressing beta-site APP-cleaving enzyme 2 reveals a new role for BACE2
(Wiley, 2010-03-10)
BACE2 is homologous to BACE1, a beta-secretase that is involved in the amyloidogenic pathway of amyloid precursor protein (APP), and maps to the Down syndrome critical region of chromosome 21. Alzheimer disease neuropathology ...
Engineering DYRK1A over-dosage yields Down syndrome-characteristic cortical splicing aberrations
(Elsevier, 2010-10)
Down syndrome (DS) associates with impaired brain functions, but the underlying mechanism(s) are yet unclear. The "gene dosage" hypothesis predicts that in DS, overexpression of a single gene can impair multiple brain ...
In vivo effects of APP are not exacerbated by BACE2 co-overexpression: behavioural characterization of a double transgenic mouse model
(Springer, 2010-07-02)
Down syndrome, the most common genetic disorder leading to mental retardation, is caused by the presence of all or part of an extra copy of chromosome 21. At relatively early ages, Down syndrome patients develop progressive ...