| First Author | Mastrangelo P | Year | 2002 |
| Journal | FEBS Lett | Volume | 532 |
| Issue | 1-2 | Pages | 21-6 |
| PubMed ID | 12459456 | Mgi Jnum | J:80646 |
| Mgi Id | MGI:2446738 | Doi | 10.1016/s0014-5793(02)03614-1 |
| Citation | Mastrangelo P, et al. (2002) A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry?. FEBS Lett 532(1-2):21-6 |
| abstractText | 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 PrP(C) 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 PrP(C) 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. |
