Protective PrP missense variants
CureFFI.org,
Above: close-up of the lysine (K) residue in an NMR structure of human prion protein with the E219K substitution, which reduces…
Annotating the literature on pathogenicity of PRNP variants
CureFFI.org,
In our study last year, by comparing case and population control allele frequencies, we managed to come to conclusions about…
Age of onset in genetic prion disease
CureFFI.org,
Introduction It may seem like age of onset in genetic prion disease has been studied to death. For the past 25 years…