The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes.
Open accessAbstract
Human uncoupling protein 3 (UCP3) is a mitochondrial transmembrane carrier that uncouples oxidative ATP phosphorylation. With the capacity to participate in thermogenesis and energy balance, UCP3 is an important obesity candidate gene. A missense polymorphism in exon 3 (V102I) was identified in an obese and diabetic proband. A mutation introducing a stop codon in exon 4 (R143X) and a terminal polymorphism in the splice donor junction of exon 6 were also identified in a compound heterozygote that was morbidly obese and diabetic. Allele frequencies of the exon 3 and exon 6 splice junction polymorphisms were determined and found to be similar in Gullah-speaking African Americans and the Mende tribe of Sierra Leone, but absent in Caucasians. Moreover, in exon 6-splice donor heterozygotes, basal fat oxidation rates were reduced by 50%, and the respiratory quotient was markedly increased compared with wild-type individuals, implicating a role for UCP3 in metabolic fuel partitioning.
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Cites
A leptin missense mutation associated with hypogonadism and morbid obesity
Strobel, A., Issad, T., Camoin, L., Ozata, M., & Strosberg, A. D. (1998) · Nature Genetics · doi:10.1038/ng0398-213 · Cited by 1,158
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The alphabet of weight control.
Friedman, J. M. (1997) · Nature · doi:10.1038/385119a0 · Cited by 180
Cited by
The Human Obesity Gene Map: The 2005 Update
Rankinen, T., Zuberi, A., Chagnon, Y. C., Weisnagel, S. J., Argyropoulos, G., Walts, B., Pérusse, L., & Bouchard, C. (2006) · Obesity · doi:10.1038/oby.2006.71 · Cited by 1,119
Self-citationSivitz, W. I., & Yorek, M. A. (2010) · Antioxidants & Redox Signaling · doi:10.1089/ars.2009.2531 · Cited by 742
Energy metabolism in uncoupling protein 3 gene knockout mice
Vidal-Puig, A. J., Grujic, D., Zhang, C.-Y., Hagen, T., Boss, O., Ido, Y., Szczepanik, A., Wade, J., Mootha, V., Cortright, R., et al. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m910179199 · Cited by 677
Tishkoff, S. A., Varkonyi, R., Cahinhinan, N., Abbes, S., Argyropoulos, G., Destro-Bisol, G., Drousiotou, A., Dangerfield, B., Lefranc, G., Loiselet, J., et al. (2001) · Science · doi:10.1126/science.1061573 · Cited by 630
Self-citationMice overexpressing human uncoupling protein-3 in skeletal muscle are hyperphagic and lean
Clapham, J. C., Arch, J. R. S., Chapman, H., Haynes, A., Lister, C., Moore, G. B. T., Piercy, V., Carter, S. A., Lehner, I., Smith, S. A., et al. (2000) · Nature · doi:10.1038/35019082 · Cited by 604
Metadata
- Authors
- Argyropoulos, G., Brown, A. M., Willi, S. M., Zhu, J., He, Y., Reitman, M., Gevao, S. M., Spruill, I., & Garvey, W. T.
- Venue
- Journal of Clinical Investigation
- Published
- 1998-10-01
- Volume
- 102
- Issue
- 7
- Pages
- 1345-1351
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W1986503787
- Cited by
- 202
- References
- 3
- FWCI
- 13.25
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Argyropoulos, G., Brown, A. M., Willi, S. M., Zhu, J., He, Y., Reitman, M., Gevao, S. M., Spruill, I., & Garvey, W. T. (1998). Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes. Journal of Clinical Investigation. https://doi.org/10.1172/jci4115
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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.
