Article
Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease.
Alzheimer disease and associated disorders - 1 Jan 2000
Kovacs Gabor G, Sanchez-Juan Pascual, Ströbel Thomas, Schuur Maaike, Poleggi Anna, Nocentini Sara, Giannattasio Claudia, Belay Girma, Bishop Matthew, Capellari Sabina, Parchi Piero, Gelpi Ellen, Gal Aniko, Bakos Agnes, Molnar Maria J, Heinemann Uta, Zerr Inga, Knight Richard S G, Mitrova Eva, van Duijn Cornelia, Budka Herbert
Abstract excerpt
Accumulation of cathepsin D immunoreactive lysosomes correlates with tissue pathology in sporadic Creutzfeldt-Jakob disease (CJD) brains. The C-to-T transition within exon 2 of the cathepsin D (CTSD) gene is associated with altered enzymatic activity. Possession of the TT genotype is a risk factor for variant CJD. To verify the association between the CTSD position 224T allele and the risk for and survival in...
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