doi: 10.1016/0169-328x(90)90038-f.
An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease
Affiliations
- PMID: 2159587
- DOI: 10.1016/0169-328x(90)90038-f
Item in Clipboard
An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease
Brain Res Mol Brain Res.
1990 Apr.
Abstract
In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene. The insertion is in-frame and codes for 6 extra uninterrupted octapeptide repeats in addition to the 5 that are normally present in the N-terminal region of the protein. The possibility that this mutation may prove relevant to elucidating the mechanism of horizontal transmission of the spongiform encephalopathies is discussed.
Similar articles
-
A dementing illness associated with a novel insertion in the prion protein gene.Brain Res Mol Brain Res. 1992 Mar;13(1-2):155-7. doi: 10.1016/0169-328x(92)90056-h. Brain Res Mol Brain Res. 1992. PMID: 1349721
-
Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene.Brain Res Mol Brain Res. 1995 Dec 1;34(1):173-6. doi: 10.1016/0169-328x(95)00175-r. Brain Res Mol Brain Res. 1995. PMID: 8750875
-
Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene.J Neurol Neurosurg Psychiatry. 1995 Jan;58(1):65-9. doi: 10.1136/jnnp.58.1.65. J Neurol Neurosurg Psychiatry. 1995. PMID: 7823070 Free PMC article.
-
Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis.Acta Neuropathol. 2011 Jan;121(1):21-37. doi: 10.1007/s00401-010-0760-4. Epub 2010 Oct 27. Acta Neuropathol. 2011. PMID: 20978903 Review.
-
Prion encephalopathies of animals and humans.Dev Biol Stand. 1993;80:31-44. Dev Biol Stand. 1993. PMID: 8270114 Review.
Cited by
-
The transmissible amyloidoses: genetical control of spontaneous generation of infectious amyloid proteins by nucleation of configurational change in host precursors: kuru-CJD-GSS-scrapie-BSE.Eur J Epidemiol. 1991 Sep;7(5):567-77. doi: 10.1007/BF00143141. Eur J Epidemiol. 1991. PMID: 1684758 Review.
-
Prions, beta-sheets and transmissible dementias: is there still something missing?Acta Neuropathol. 1995;90(2):113-25. doi: 10.1007/BF00294309. Acta Neuropathol. 1995. PMID: 7484085 Review. No abstract available.
-
Neurodegeneration in humans caused by prions.West J Med. 1994 Sep;161(3):264-72. West J Med. 1994. PMID: 7975565 Free PMC article. Review.
-
Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families.Eur J Epidemiol. 1991 Sep;7(5):477-86. doi: 10.1007/BF00143125. Eur J Epidemiol. 1991. PMID: 1684755
-
Genomic structure of the human prion protein gene.Am J Hum Genet. 1991 Aug;49(2):320-9. Am J Hum Genet. 1991. PMID: 1678248 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases
Research Materials
