The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.
Open accessAbstract
The PRNP gene, encoding the amyloid precursor protein that is centrally involved in Creutzfeldt-Jakob disease (CJD), has an unstable region of five variant tandem octapeptide coding repeats between codons 51 and 91. We screened a total of 535 individuals for the presence of extra repeats in this region, including patients with sporadic and familial forms of spongiform encephalopathy, members of their families, other neurological and non-neurological patients, and normal controls. We identified three CJD families (in each of which the proband's disease was neuropathologically confirmed and experimentally transmitted to primates) that were heterozygous for alleles with 10, 12, or 13 repeats, some of which had "wobble" nucleotide substitutions. We also found one individual with 9 repeats and no nucleotide substitutions who had no evidence of neurological disease. These observations, together with data on published British patients with 11 and 14 repeats, strongly suggest that the occurrence of 10 or more octapeptide repeats in the encoded amyloid precursor protein predisposes to CJD.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., & Arnheim, N. (1985) · Science · doi:10.1126/science.2999980 · Cited by 8,956
Molecular Biology of Prion Diseases
Prusiner, S. B. (1991) · Science · doi:10.1126/science.1675487 · Cited by 1,988
Linkage of a prion protein missense variant to Gerstmann–Sträussler syndrome
Hsiao, K., Baker, H. F., Crow, T. J., Poulter, M., Owen, F., Terwilliger, J. D., Westaway, D., Ott, J., & Prusiner, S. B. (1989) · Nature · doi:10.1038/338342a0 · Cited by 849
Masters, C. L., Harris, J. O., Gajdusek, D. C., Gibbs, C. J., Bernoulli, C., & Asher, D. M. (1979) · Annals of Neurology · doi:10.1002/ana.410050212 · Cited by 629
Self-citationMolecular Model for Elastin Structure and Function
GRAY, W. R., SANDBERG, L. B., & FOSTER, J. A. (1973) · Nature · doi:10.1038/246461a0 · Cited by 405
Corden, J. L. (1990) · Trends in Biochemical Sciences · doi:10.1016/0968-0004(90)90236-5 · Cited by 327
Brown, P., Cathala, F., Raubertas, R. F., Gajdusek, D. C., & Castaigne, P. (1987) · Neurology · doi:10.1212/wnl.37.6.895 · Cited by 307
Self-citationINSERTION IN PRION PROTEIN GENE IN FAMILIAL CREUTZFELDT-IAKOB DISEASE
Owen, F., Lofthouse, R., Crow, T. J., Baker, H. F., Poulter, M., Collinge, J., Risby, D., Ridley, R. M., Hsiao, K., & Prusiner, S. B. (1989) · The Lancet · doi:10.1016/s0140-6736(89)91713-3 · Cited by 305
Doh-ura, K., Tateishi, J., Sasaki, H., Kitamoto, T., & Sakaki, Y. (1989) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(89)92317-6 · Cited by 264
Cited by
Pathology of Neurodegenerative Diseases
Dugger, B. N., & Dickson, D. W. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028035 · Cited by 1,665
Donne, D. G., Viles, J. H., Groth, D., Mehlhorn, I., James, T. L., Cohen, F. E., Prusiner, S. B., Wright, P. E., & Dyson, H. J. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.25.13452 · Cited by 674
Quantifying prion disease penetrance using large population control cohorts
Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aad5169 · Cited by 442
Bellingham, S. A., Coleman, B. M., & Hill, A. F. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks832 · Cited by 440
Molecular Features of the Copper Binding Sites in the Octarepeat Domain of the Prion Protein
Burns, C. S., Aronoff-Spencer, E., Dunham, C. M., Lario, P., Avdievich, N. I., Antholine, W. E., Olmstead, M. M., Vrielink, A., Gerfen, G. J., Peisach, J., et al. (2002) · Biochemistry · doi:10.1021/bi011922x · Cited by 417
Metadata
- Authors
- Goldfarb, L. G., Brown, P., McCombie, W. R., Goldgaber, D., Swergold, G. D., Wills, P. R., Cervenakova, L., Baron, H., Gibbs, C. J., & Gajdusek, D. C.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1991-12
- Volume
- 88
- Issue
- 23
- Pages
- 10926-10930
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2117016125
- Cited by
- 332
- References
- 30
- FWCI
- 5.71
- Type
- journal article
- Language
- en
- Open access
- green
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. https://app.cochat.ai/papers/10.1073/pnas.88.23.10926
- The paper
- Goldfarb, L. G., Brown, P., McCombie, W. R., Goldgaber, D., Swergold, G. D., Wills, P. R., Cervenakova, L., Baron, H., Gibbs, C. J., & Gajdusek, D. C. (1991). Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.88.23.10926
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
