The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19
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Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
DEFECTIVE BRAIN MICROTUBULE ASSEMBLY IN ALZHEIMER'S DISEASE
Iqbal, K., Zaidi, T., Wen, G., Grundke-Iqbal, I., Merz, P., Shaikh, S., Wisniewski, H., Alafuzoff, I., & Winblad, B. (1986) · The Lancet · doi:10.1016/s0140-6736(86)92134-3 · Cited by 725
Ward, C. L., & Kopito, R. R. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)47306-1 · Cited by 486
Baron, D. N., Dent, C. E., Harris, H., Hart, E. W., & Jepson, J. B. (1956) · The Lancet · doi:10.1016/s0140-6736(56)91914-6 · Cited by 409
Function and structure of heterodimeric amino acid transporters
Wagner, C. A., Lang, F., & Bröer, S. (2001) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.2001.281.4.c1077 · Cited by 357
Self-citationSloan, J. L., & Mager, S. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.34.23740 · Cited by 342
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
Kleta, R., Romeo, E., Ristic, Z., Ohura, T., Stuart, C., Arcos-Burgos, M., Dave, M. H., Wagner, C. A., Camargo, S. R. M., Inoue, S., et al. (2004) · Nature Genetics · doi:10.1038/ng1405 · Cited by 308
Multiple transport pathways for neutral amino acids in rabbit jejunal brush border vesicles
Stevens, B. R., Ross, H. J., & Wright, E. M. (1982) · The Journal of Membrane Biology · doi:10.1007/bf01868496 · Cited by 303
Kekuda, R., Prasad, P. D., Fei, Y.-J., Torres-Zamorano, V., Sinha, S., Yang-Feng, T. L., Leibach, F. H., & Ganapathy, V. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.31.18657 · Cited by 271
Cited by
The solute carrier 6 family of transporters
Bröer, S., & Gether, U. (2012) · British Journal of Pharmacology · doi:10.1111/j.1476-5381.2012.01975.x · Cited by 269
Self-citationBlood-brain barrier transport machineries and targeted therapy of brain diseases
Barar, J., Rafi, M. A., Pourseif, M. M., & Omidi, Y. (2016) · BioImpacts · doi:10.15171/bi.2016.30 · Cited by 257
Glutamine Transport and Mitochondrial Metabolism in Cancer Cell Growth
Scalise, M., Pochini, L., Galluccio, M., Console, L., & Indiveri, C. (2017) · Frontiers in Oncology · doi:10.3389/fonc.2017.00306 · Cited by 183
Bailey, C. G., Ryan, R. M., Thoeng, A. D., Ng, C., King, K., Vanslambrouck, J. M., Auray-Blais, C., Vandenberg, R. J., Bröer, S., & Rasko, J. E. J. (2011) · Journal of Clinical Investigation · doi:10.1172/jci44474 · Cited by 162
Self-citation
Metadata
- Authors
- Seow, H. F., Bröer, S., Bröer, A., Bailey, C. G., Potter, S. J., Cavanaugh, J. A., & Rasko, J. E. J.
- Venue
- Nature Genetics
- Published
- 2004-08-01
- Volume
- 36
- Issue
- 9
- Pages
- 1003-1007
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1965204257
- Cited by
- 277
- References
- 25
- FWCI
- 5.59
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. https://app.cochat.ai/papers/10.1038/ng1406
- The paper
- Seow, H. F., Bröer, S., Bröer, A., Bailey, C. G., Potter, S. J., Cavanaugh, J. A., & Rasko, J. E. J. (2004). Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nature Genetics. https://doi.org/10.1038/ng1406
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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.
