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- Title
A cluster of familial Creutzfeldt–Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry?
- Authors
Mastrangelo, Peter; Serpell, Louise; Dafforn, Tim; Lesk, Arthur; Fraser, Paul; Westaway, David
- Abstract
Intrachromosomal deletions linking Dpl expression to the PrP promoter produce cerebellar degeneration that can be abrogated by the introduction of wild-type PrP transgenes. Since Dpl-like truncated forms of PrP are neuropathogenic in mice and likewise counterbalanced by expression of PrPC we asked whether naturally occurring mutant forms of human PrP have Dpl-like attributes. Five PRNP missense mutations causing familial Creutzfeldt–Jakob disease (F-CJD) map to a helical region found in both PrPC and Dpl and result in amino acids identical to conserved residues in Dpl. These F-CJD alleles may cause mutant PrP to become a weak mimetic of Dpl structure and/or function.
- Subjects
CREUTZFELDT-Jakob disease; CEREBELLUM degeneration
- Publication
FEBS Letters, 2002, Vol 532, Issue 1/2, p21
- ISSN
0014-5793
- Publication type
Article
- DOI
10.1016/S0014-5793(02)03614-1