The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
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
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
The ancient regulatory-protein family of WD-repeat proteins
Neer, E. J., Schmidt, C. J., Nambudripad, R., & Smith, T. F. (1994) · Nature · doi:10.1038/371297a0 · Cited by 1,498
Swinkels, B. W., Gould, S. J., Bodnar, A. G., Rachubinski, R. A., & Subramani, S. (1991) · The EMBO Journal · doi:10.1002/j.1460-2075.1991.tb04889.x · Cited by 623
Dodt, G., Braverman, N., Wong, C., Moser, A., Moser, H. W., Watkins, P., Valle, D., & Gould, S. J. (1995) · Nature Genetics · doi:10.1038/ng0295-115 · Cited by 424
Protein Import into Peroxisomes and Biogenesis of the Organelle
Subramani, S. (1993) · Annual Review of Cell Biology · doi:10.1146/annurev.cb.09.110193.002305 · Cited by 416
A unified nomenclature for peroxisome biogenesis factors.
Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., et al. (1996) · The Journal of cell biology · doi:10.1083/jcb.135.1.1 · Cited by 414
Self-citationDodt, G., & Gould, S. J. (1996) · The Journal of cell biology · doi:10.1083/jcb.135.6.1763 · Cited by 315
Marzioch, M., Erdmann, R., Veenhuis, M., & Kunau, W. H. (1994) · The EMBO Journal · doi:10.1002/j.1460-2075.1994.tb06818.x · Cited by 296
Tsukamoto, T., Miura, S., & Fujiki, Y. (1991) · Nature · doi:10.1038/350077a0 · Cited by 251
van der Voorn, L., & Ploegh, H. L. (1992) · FEBS Letters · doi:10.1016/0014-5793(92)80751-2 · Cited by 245
Cited by
Plasmalogens: biosynthesis and functions
Nagan, N., & Zoeller, R. A. (2001) · Progress in Lipid Research · doi:10.1016/s0163-7827(01)00003-0 · Cited by 654
Peroxisome biogenesis disorders
Steinberg, S. J., Dodt, G., Raymond, G. V., Braverman, N. E., Moser, A. B., & Moser, H. W. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.09.010 · Cited by 522
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., et al. (2013) · Neuron · doi:10.1016/j.neuron.2012.11.002 · Cited by 442
Purdue, P. E., & Lazarow, P. B. (2001) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.17.1.701 · Cited by 322
Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene
Jansen, G. A., Oftnan, R., Ferdinandusse, S., Ijlst, L., Muijsers, A. O., Skjeldal, O. H., Stokke, O., Jakobs, C., Besley, G. T. N., Wraith, J. E., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-190 · Cited by 307
Self-citation
Metadata
- Authors
- Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S., Tabak, H. F., Wanders, R. J. A., & Distel, B.
- Venue
- Nature Genetics
- Published
- 1997-04
- Volume
- 15
- Issue
- 4
- Pages
- 377-380
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1987049546
- Cited by
- 271
- References
- 31
- FWCI
- 21.04
- Type
- journal article
- Language
- en
- Open access
- closed
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: Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. https://app.cochat.ai/papers/10.1038/ng0497-377
- The paper
- Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S., Tabak, H. F., Wanders, R. J. A., & Distel, B. (1997). Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nature Genetics. https://doi.org/10.1038/ng0497-377
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.
