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PSEN1Presenilin 1
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However, truly familial cases of AD are rather rare (at most 10% of all cases) and are due to mutations in the APP, PSEN1 ,or PSEN2 gene.
Molecular mutation analysis of a-secretase genes including PSENEN, PSEN1, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing.
Mendelian inheritance of 3 genes, PSEN1, PSEN2, and APP, is associated with an early-onset Alzheimer's disease (EOAD).
After thorough characterization of the NPCs through gene expression profiling and other methods, they identified fourteen genes that behaved differently in PSEN1 NPCs relative to NPCs from individuals without the mutation.
Ringman and his associates suggest an increased degree of depressive symptoms in otherwise asymptomatic women inheriting PSEN1 mutations relative to their non--mutation carrying kin (J.
They first performed CSF and plasma assays in 10 carriers of the PSEN1 E280A mutation and 10 noncarriers who were matched for demographic characteristics.
Brain imaging, blood tests and analysis of cerebrospinal fluid (CSF) found 20 out of a group of 44 youngsters had PSEN1.
These possible "loss of function" PSEN1 mutations might act as inhibitors of the [gamma]-secretase cleavage of amyloid precursor protein (27), leading to a decrease of A[beta] (1-42) in the brain.
sup][2] found independent loss-of-function mutations in presenilin enhancer gamma-secretase subunit ( PSENEN ), presenilin 1 ( PSEN1 ), or Nicastrin ( NCSTN ), which encode essential components of the a-secretase multiprotein complex.