Article
Allelic origin of the abnormal prion protein isoform in familial prion diseases.
Nature medicine - 1 Sept 1997
Chen S G, Parchi P, Brown P, Capellari S, Zou W, Cochran E J, Vnencak-Jones C L, Julien J, Vital C, Mikol J, Lugaresi E, Autilio-Gambetti L, Gambetti P
Abstract excerpt
The hallmark of prion diseases is the presence of an aberrant isoform of the prion protein (PrP(res)) that is insoluble in nondenaturing detergents and resistant to proteases. We investigated the allelic origin of PrP(res) in brains of subjects heterozygous for the D178N mutation linked to fatal familial insomnia (FFI) and a subtype of Creutzfeldt-Jakob disease (CJD178), as well as for insertional mutations...
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