Article
A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles.
PLoS pathogens - 1 Jan 2018
Mercer Robert C C, Daude Nathalie, Dorosh Lyudmyla, Fu Ze-Lin, Mays Charles E, Gapeshina Hristina, Wohlgemuth Serene L, Acevedo-Morantes Claudia Y, Yang Jing, Cashman Neil R, Coulthart Michael B, Pearson Dawn M, Joseph Jeffrey T, Wille Holger, Safar Jiri G, Jansen Gerard H, Stepanova Maria, Sykes Brian D, Westaway David
Abstract excerpt
To explore pathogenesis in a young Gerstmann-Sträussler-Scheinker Disease (GSS) patient, the corresponding mutation, an eight-residue duplication in the hydrophobic region (HR), was inserted into the wild type mouse PrP gene. Transgenic (Tg) mouse lines expressing this mutation (Tg.HRdup) developed spontaneous neurologic syndromes and brain extracts hastened disease in low-expressor Tg.HRdup mice, suggesting de...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Animals
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Mice
- Mice, Transgenic
- Middle Aged