Skeletal and CNS Defects in Presenilin-1-Deficient Mice

@article{Shen1997SkeletalAC,
  title={Skeletal and CNS Defects in Presenilin-1-Deficient Mice},
  author={Jie Shen and Roderick T Bronson and Dong Feng Chen and Weiming Xia and Dennis J. Selkoe and Susumu Tonegawa},
  journal={Cell},
  year={1997},
  volume={89},
  pages={629-639}
}
Presenilin-1 (PS1) is the major gene responsible for early-onset familial Alzheimer's disease (FAD). To understand the normal function of PS1, we have generated a targeted null mutation in the murine homolog of PS1. We report that PS1-/- mice die shortly after natural birth or Caesarean section. The skeleton of homozygous mutants is grossly deformed. Hemorrhages occur in the CNS of PS1 null mutants with varying location, severity, and time of onset. The ventricular zone of PS1-/- brains is… 
Presenilin 1 is essential for cardiac morphogenesis
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TLDR
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Presenilin-1 regulates neuronal differentiation during neurogenesis.
TLDR
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TLDR
It is demonstrated that, similar to their mammalian counterparts, Drosophila Psn and Nct are required for neuronal survival during aging and normal lifespan, highlighting an evolutionarily conserved role of Presenilin in neuronal protection in the aging brain.
Role of presenilin-1 in cortical lamination and survival of Cajal-Retzius neurons.
TLDR
Findings show a cell-aut autonomous role for PS1 in cortical lamination and radial glial development, and a non-cell-autonomous role forPS1 in CR neuron survival.
Differential display analysis of presenilin 1-deficient mouse brains.
TLDR
Clarification of the possible role of these genes in AD and the basis for their differential expression induced by PS1-deficiency may provide insight into the disease, presenilin function and consequences of its loss, as well as possible deleterious effects of AD therapeutics aimed at inhibiting PS1.
Presenilin-1 Function in the Adult Brain
TLDR
It is shown that elimination of PS 1 expression leads to pleiotropic effects during embryonic development, including impaired neurogenesis and reduced Notch signalling and the possibility that targeting PS 1 may be an effective therapeutic strategy for AD 1.
The presenilin-1 familial Alzheimer disease mutant P117L impairs neurogenesis in the hippocampus of adult mice
TLDR
It is demonstrated that a PS1 FAD mutant impairs new neuron production in adult hippocampus by decreasing neural progenitor survival, and a new mechanism whereby PS 1 FAD mutants may impair normal neuronal function and may have implications for the physiological functioning of the hippocampus in FAD is identified.
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TLDR
Observations show that, like Notch, PS1 and PS2 are strongly developmentally regulated, and support the plausibility of an interaction between PSs and Notch.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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