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| 1 | The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle显示文摘Carbamoyl phosphate synthetase 1(CPS1) deficiency(CPS1D) is an inborn error of the urea cycle having autosomal(2q34) recessive inheritance that can cause hyperammonemia and neonatal death or mental retardation. We analyzed the effects on CPS1 activity, kinetic parameters and enzyme stability of missense mutations reported in patients with CPS1 deficiency that map in the 20-k Da C-terminal domain of the enzyme. This domain turns on or off the enzyme depending on whether the essential allosteric activator of CPS1, N-acetylL-glutamate(NAG), is bound or is not bound to it. To carry out the present studies, we exploited a novel system that allows the expression in vitro and the purification of human CPS1, thus permitting site-directed mutagenesis. These studies have clarified disease causation by individual mutations, identifying functionally important residues, and revealing that a number of mutations decrease the affinity of the enzyme for NAG. Patients with NAG affinity-decreasing mutations might benefit from NAG site saturation therapy with N-carbamyl-Lglutamate(a registered drug, the analog of NAG). Our results, together with additional present and prior site-directed mutagenesis data for other residues mapping in this domain, suggest an NAG-triggered conformational change in the b4-a4 loop of the C-terminal domain of this enzyme. This change might be an early event in the NAG activation process. Molecular dynamics simulations that were restrained according to the observed effects of the mutations are consistent with this hypothesis, providing further backing for this structurally plausible signaling mechanism by which NAG could trigger urea cycle activation via CPS1. | Carmen Díez-Fernández José Gallego Johannes H?berle Javier Cervera Vicente Rubio | 2015 | Journal of Genetics and Genomics2015，42，5： | 7 |
| 2 | Germanene: a novel two-dimensional germanium allotrope akin to graphene and silicene显示文摘 | M E Dávila L Xian S Cahangirov A Rubio G Le Lay | 2014 | New Journal of Physics2014，，： | 3 |
| 3 | Optimal thermoelectric figure of merit of Si/Ge core-shell nanowires显示文摘我们调查 Si 和 Ge nanowires 的热电的精力变换效率,并且特别地, Si/Ge 核心壳 nanowires 的。我们显示出 Si 核心 nanowire 上的薄 Ge 壳的存在怎么增加优点的全面数字。我们发现 Ge 壳的最佳的厚度为设备提供优点的最大的数字。我们也认为 Ge core/Si 是壳 nanowires,并且证明 Si 壳的最佳的厚度不存在,自从优点的数字是 nanowire 的半径的 monotonically 减少的功能。最后,我们验证联系电子精力差距到最大化设备的效率的最佳的工作温度的实验法律。 | Kaike Yang Andres Cantarero Angel Rubio Roberto D'Agosta | 2015 | Nano Research2015，8，8： | 2 |
| 4 | Evaluation and optimization of an on- line admieelle- based extraction- liquid chromatography approach for the analysis of ionic organic compounds 显示文摘 | Merino F Rubio S Perez- Bendito D | 2004 | Anal Chem2004，76，： | 1 |
| 5 | Determination of phthalate ersters in sewage by hemimicelles-based solid-phase extraction and liquid chromatography-mass spectrometry显示文摘 | L6 pez-Jim nez F J Rubio S Perez-B ndito :''' D | 2005 | Anal Chim Acta2005，551，12： | 1 |
| 6 | Radiation characteristics of thin-wire ternary fractal trees 显示文摘 | Werner D H Rubio B A Long B R | 1996 | Electronics Letters1996，35，8： | 1 |
| 7 | Spontaneous human adult stem cell transformation 显示文摘 | Rubio D Garcia-Castro J Martin MC | 2005 | Cancer Res2005，65，： | 1 |
| 8 | Effect of high pressure preservation on the quality of dry cured beef'Cecina de Leon'显示文摘 | RUBIO B MARTNEZ B GARCA-CACHN M D | 2007 | Innovative Food Science and Emerging Technologies2007，8，1： | 1 |
| 9 | Apoptosis induced by paclitaxel via Bel-2, Bax and caspases 3 and 9 activation in NB4 human leukaemia cells is not modulated by ERK inhibi tion显示文摘 | Morales-Cano D Calviho E Rubio V | 2013 | Exp Toxicol Pathol2013，65，78： | 1 |
| 10 | Retrosteral goiters : safety of surgical treatment 显示文摘 | Parra - Membrives P Sanchez - Blanco JM Gomez - Rubio D | 2003 | Int Surg2003，88，2： | 1 |
| 11 | Molecular characterization of spontaneous mesenehymal stem cell transformation 显示文摘 | Rubio D Garcia S Paz MF | 2008 | PLoS ONE2008，3，1： | 1 |
| 12 | Stability Studies of Carbonate Pesticides and Analysis by Gas Chroma- tography with Flame Ionization and Nitrogen - phosphorus Detection 显示文摘 | SANTOS M J D RUBIO B S FERNONDEZ -TOSTADO G T | 2001 | J Chromatography2001，921，： | 1 |
| 13 | Analyticalmethods for the determination of bisphenol A in food显示文摘 | Ballesteros-Gómez A Rubio S Pérez-Bendito D | | 0，，03： | 1 |
| 14 | Phosphorus bioavailability affected by tinage and crop rotation on a Chilean volcanic derived Ultisol 显示文摘 | Redel Y D Rubio R Rouanet J L Bode F | 2007 | Geoderma2007，139，： | 1 |
| 15 | Hex adecylpyridinium chloride micelles for the simultaneous kinetic determination of cysteine and cystine by their in duction of the iodine-azide reaction显示文摘 | RUBIO S Perez-Bendito D | 1997 | Anal Chem Acta1997，337，： | 1 |
| 16 | Bump-type foil bearing structural stiffness:experiments and predictions显示文摘 | Rubio D Andrfs L S | 2006 | ASME Journal of Engineering for Gas Turbine and Power2006，128，3： | 1 |
| 17 | Mixed aggregate - based acid - induced cloud - point extractioo and ion - trap liquid chromatography - mass spectrometry for the determination of cationic surfactants in sewage sludge 显示文摘 | MERINO F RUBIO S P-REZ - BENDITO D | 2003 | J Chromatogr A2003，998，12： | 1 |
| 18 | Human mesenchymal stem cell transformation is associaated with a mesenchymal-epithelial transition显示文摘 | Rubio D Garcia S De la Cueva T | 2008 | Exp Cell Res2008，314，4： | 1 |
| 19 | Spontaneous human adult stem cell transformation显示文摘 | RUBIO D GARCIA CASTRO J MARTIN M C | 2005 | Cancer Res2005，65，8： | 1 |
| 20 | Acid-induced phase cloud point separation approach using anionic surfactants for the extraction and preconcentration of organic compounds 显示文摘 | CASERO I SICILIA D RUBIO S | 1999 | Anal Chem1999，71，： | 1 |
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