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Authors: Zaidi, Syed I.A. | Richardson, Sandra L. | Capellari, Sabina | Song, Li | Smith, Mark A. | Ghetti, Bernardino | Sy, Man-Sun | Gambetti, Pierluigi | Petersen, Robert B.

Article Type: Research Article

Abstract: Prion diseases are associated with the accumulation of a misfolded, protease resistant form of the prion protein, PrPres . In humans there are a variety of different prion related diseases that are sporadic, inherited, or acquired by infection. Gerstmann-Straussler-Sheinker syndrome (GSS) is an inherited prion disease in which PrPres accumulates as amorphous aggregates as well as in amyloid plaques. GSS has been associated with a variety of point mutations in the prion protein: 102, 105, 117, 131, 145, 187, 198, 202, 212, 217, and 232. The F198S mutation was discovered in a large Indiana kindred. Previous studies in vitro have …shown that the 198 mutation results in structural instability of the prion protein. In the current study, we demonstrate in a cell model that the F198S mutant protein can be folded properly in a cellular context, but is unable to refold to a native state after denaturation. Further, the F198S mutation significantly affects glycosylation of the mutant protein. Show more

DOI: 10.3233/JAD-2005-7209

Citation: Journal of Alzheimer's Disease, vol. 7, no. 2, pp. 159-171, 2005