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Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA. Adams DR, et al. Among authors: hanson rw. Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13. Mol Genet Metab. 2014. PMID: 24863970 Free PMC article.
Born to run; the story of the PEPCK-Cmus mouse.
Hanson RW, Hakimi P. Hanson RW, et al. Biochimie. 2008 Jun;90(6):838-42. doi: 10.1016/j.biochi.2008.03.009. Epub 2008 Apr 3. Biochimie. 2008. PMID: 18394430 Free PMC article. Review.
Activation of SIRT1 by resveratrol represses transcription of the gene for the cytosolic form of phosphoenolpyruvate carboxykinase (GTP) by deacetylating hepatic nuclear factor 4alpha.
Yang J, Kong X, Martins-Santos ME, Aleman G, Chaco E, Liu GE, Wu SY, Samols D, Hakimi P, Chiang CM, Hanson RW. Yang J, et al. Among authors: hanson rw. J Biol Chem. 2009 Oct 2;284(40):27042-53. doi: 10.1074/jbc.M109.047340. Epub 2009 Aug 3. J Biol Chem. 2009. PMID: 19651778 Free PMC article.
257 results