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PSEN1Presenilin 1
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Age-related amyloid [beta] deposition in transgenic mice overexpressing both Alzheimer mutant presenilin 1 and amyloid [beta] precursor protein Swedish mutant is not associated with global neuronal loss.
Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes.
(2002) Neuronal deficiency of presenilin 1 inhibits amyloid plaque formation and corrects hippocampal long-term potentiation but not a cognitive defect of amyloid precursor protein [V717I] transgenic mice.
Kumar et al., "Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations," Cell, vol.
Zheng, "Accelerated plaque accumulation, associative learning deficits, and up-regulation of a.7 nicotinic receptor protein in transgenic mice co-expressing mutant human presenilin 1 and amyloid precursor proteins," The Journal of Biological Chemistry, vol.
Furthermore, notably stimulated astrocytes reactivity indicated as increased GFAP level, as well as hyperphosphorylated tau and overexpression of presenilin 1, were found in the hippocampus of D-gal treated rats.
Predementia clinical stages in presenilin 1 E280A familial early-onset alzheimer's disease a retrospective cohort study.
Wang et al .[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.
The study tracked brain PET imaging changes in 52 people: 27 from families with autosomal dominant Alzheimer's disease (ADAD) mutations, including presenilin 1 or amyloid precursor protein genes, and 25 with sporadic Alzheimer's disease or mild cognitive impairment (MCI).
"These mutations involve the gene for the amyloid precursor protein (APP) and the genes for the presenilin 1 and presenilin 2 proteins.
However, it will be interesting to see if amyloid-based therapies are useful in genetic cases (amyloid precursor protein and presenilin 1 or 2) of AD.
Instead the MGH team used a gel-based, three-dimensional culture system to grow human neural stem cells that carried variants in two genes -- the amyloid precursor protein and presenilin 1 -- known to underlie early-onset familial Alzheimer's Disease (FAD).