The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
A Mutation in PRKAG3 Associated with Excess Glycogen Content in Pig Skeletal Muscle
Abstract
A high proportion of purebred Hampshire pigs carries the dominant RN − mutation, which causes high glycogen content in skeletal muscle. The mutation has beneficial effects on meat content but detrimental effects on processing yield. Here, it is shown that the mutation is a nonconservative substitution (R200Q) in the PRKAG3 gene, which encodes a muscle-specific isoform of the regulatory γ subunit of adenosine monophosphate–activated protein kinase (AMPK). Loss-of-function mutations in the homologous gene in yeast ( SNF4 ) cause defects in glucose metabolism, including glycogen storage. Further analysis of the PRKAG3 signaling pathway may provide insights into muscle physiology as well as the pathogenesis of noninsulin-dependent diabetes mellitus in humans, a metabolic disorder associated with impaired glycogen synthesis.
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Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669
Base-Calling of Automated Sequencer Traces Using Phred. II. Error Probabilities
Ewing, B., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.186 · Cited by 5,439
Characterization of AMP-activated protein kinase γ-subunit isoforms and their role in AMP binding
CHEUNG, P. C. F., SALT, I. P., DAVIES, S. P., HARDIE, D. G., & CARLING, D. (2000) · Biochemical Journal · doi:10.1042/bj3460659 · Cited by 637
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Kahn, B. B., Alquier, T., Carling, D., & Hardie, D. G. (2005) · Cell Metabolism · doi:10.1016/j.cmet.2004.12.003 · Cited by 2,799
AMPK signalling in health and disease
Carling, D. (2017) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2017.01.005 · Cited by 797
Scott, J. W., Hawley, S. A., Green, K. A., Anis, M., Stewart, G., Scullion, G. A., Norman, D. G., & Hardie, D. G. (2004) · Journal of Clinical Investigation · doi:10.1172/jci19874 · Cited by 754
Strong signatures of selection in the domestic pig genome
Rubin, C.-J., Megens, H.-J., Barrio, A. M., Maqbool, K., Sayyab, S., Schwochow, D., Wang, C., Carlborg, Ö., Jern, P., Jørgensen, C. B., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1217149109 · Cited by 652
Self-citationAMPK β Subunit Targets Metabolic Stress Sensing to Glycogen
Polekhina, G., Gupta, A., Michell, B. J., van Denderen, B., Murthy, S., Feil, S. C., Jennings, I. G., Campbell, D. J., Witters, L. A., Parker, M. W., et al. (2003) · Current Biology · doi:10.1016/s0960-9822(03)00292-6 · Cited by 423
Metadata
- Authors
- Milan, D., Jeon, J.-T., Looft, C., Amarger, V., Robic, A., Thelander, M., Rogel-Gaillard, C., Paul, S., Iannuccelli, N., Rask, L., Ronne, H., Lundström, K., Reinsch, N., Gellin, J., Kalm, E., Roy, P. L., Chardon, P., & Andersson, L.
- Venue
- Science
- Published
- 2000-05-19
- Volume
- 288
- Issue
- 5469
- Pages
- 1248-1251
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2140586775
- Cited by
- 717
- References
- 3
- FWCI
- 12.39
- Type
- journal article
- Language
- en
- Open access
- closed
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- Milan, D., Jeon, J.-T., Looft, C., Amarger, V., Robic, A., Thelander, M., Rogel-Gaillard, C., Paul, S., Iannuccelli, N., Rask, L., Ronne, H., Lundström, K., Reinsch, N., Gellin, J., Kalm, E., Roy, P. L., Chardon, P., & Andersson, L. (2000). A Mutation in PRKAG3 Associated with Excess Glycogen Content in Pig Skeletal Muscle. Science. https://doi.org/10.1126/science.288.5469.1248
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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