. Mutant human presenilin 1 protects presenilin 1 null mouse against embryonic lethality and elevates Abeta1-42/43 expression. Neuron. 1998 Mar;20(3):611-7. PubMed.


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  1. This is extremely an important paper. Axial skeleton malformation and CNS defects in PS1-null mice is rescued by both wild and mutated PS1. It indicates that PS1 plays at least two roles involved in axial skeletal formation and amyloid formation.

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