Article
Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity.
Human molecular genetics - 1 Feb 2008
Nornes Svanhild, Newman Morgan, Verdile Giuseppe, Wells Simon, Stoick-Cooper Cristi L, Tucker Ben, Frederich-Sleptsova Inna, Martins Ralph, Lardelli Michael
Abstract excerpt
Missense mutations in the PRESENILIN1 (PSEN1) gene frequently underlie familial Alzheimer's disease (FAD). Nonsense and most splicing mutations result in the synthesis of truncated peptides, and it has been assumed that truncated PSEN1 protein is functionless so that heterozygotes for these mutations are unaffected. Some FAD mutations affecting PSEN1 mRNA splicing cause loss of exon 8 or 9 sequences while...
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