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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 | Fecal lactoferrin accurately reflects mucosal inflammation in inflammatory bowel disease显示文摘BACKGROUND Studies have demonstrated a potential role for fecal biomarkers such as fecal calprotectin(FC)and fecal lactoferrin(FL)in monitoring inflammatory bowel diseases(IBD)-Crohn's disease(CD)and ulcerative colitis(UC).However,their correlation to endoscopic scores,disease severity and affected intestinal surface has not been extensively investigated.AIM To correlate FL,and for comparison white blood cell(WBC)and C-reactive protein(CRP),with endoscopic scores,disease extent and location in CD and UC.METHODS Retrospective analysis in 188 patients who had FL,CRP and WBC determined within 30 d of endoscopy.Disease location,disease extent(number of intestinal segments involved),disease severity(determined by endoscopic scores),timing of FL testing in relation to colonoscopy,as well as the use of effective fast acting medications(steroids and biologics)between colonoscopy and FL measurement,were recorded.RESULTS In 131 CD and 57 UC patients,both CRP and FL-but not WBC-distinguished disease severity(inactive,mild,moderate,severe).In patients receiving fastacting(steroids or biologics)treatment in between FL and colonoscopy,FL showed a higher correlation to endoscopic scores when tested before vs after the procedure(r=0.596,P<0.001,vs r=0.285,P=0.15 for the Simple Endoscopic Score for CD;and r=0.402,P=0.01 vs r=0.054 P=0.84 for Disease Activity Index).Finally,FL was significantly correlated with the diseased mucosal surface(colon-ileocolon>small bowel)and the number of inflamed colon segments.CONCLUSION FL and CRP separated disease severity categories with FL showing lower discriminating P-values.FL showed a close correlation with the involved mucosal surface and with disease extent and was more closely correlated to endoscopy when determined before the procedure–this indicating that inflammatory activity changes associated with therapy might be rapidly reflected by FL levels.FL can accurately and timely characterize intestinal inflammation in IBD. | Marrieth G Rubio Kofi Amo-Mensah James M Gray Vu Q Nguyen Sam Nakat Douglas Grider Kim Love James H Boone Dario Sorrentino | 2019 | World Journal of Gastrointestinal Pathophysiology2019，10，5： | 4 |
| 3 | Characterization and environmental application of a Chilean natural zeolite 显示文摘 | ENGLERT A H RUBIO J | 2005 | International Journal of Mineral Processing2005，75，12： | 1 |
| 4 | 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 |
| 5 | In vitro reconstitution of an abscisic acid signalling pathway显示文摘 | FUJII H CHINNUSAMY V RODRIGUES A RUBIO S AATONI R PARK S Y CUTLER S R SHEEN J ROTRIGUES P L ZHU J K | 2009 | Nature2009，462，： | 1 |
| 6 | Effect of polyacrylamide on seedling emergence of grass species显示文摘 | Rubio H O wood M K Cardenas B A | 1989 | SoilSci1989，148，： | 1 |
| 7 | Impairment of rapid repetitive finger movements and visual reaction time in patients with essential tremor显示文摘 | Jim6nez-Jim6nez FJ Rubio L Alonso-Navarro H | 2010 | Eur J Neurol2010，17，1： | 1 |
| 8 | A dried hydrophobic acquaphyte as an oil filter for oil/water emulsions 显示文摘 | Ribeiro T H Rubio J Smith R W | 2003 | Spill Science & Technology Bulletin2003，8，5： | 1 |
| 9 | Characterization and environmental application of a Chilean natural zeolite显示文摘 | Englert A H Rubio J | 2005 | International Journal of Mineral Processing2005，75，1： | 1 |
| 10 | Human monocyte-derived dendritic cells induce naive T cell differentiation into T helper cell type 2(Th2) or Th1/Th2 effectors,role of stimulator/responder ratio显示文摘 | Demeure C E Rubio M | 2000 | J Exp Med2000，192，3： | 1 |
| 11 | The N-terminal region of the human papillomavirus L2 protein contains overlapping binding sites for neutralizing, cross-neutralizing and non-neu- tralizing antibodies显示文摘 | Rubio I Seitz H Canali E | 2011 | Virology2011，409，2： | 1 |
| 12 | Effect of phosphorus availability on basal root shallowness in common bean 显示文摘 | Liao H Rubio G Yan X | 2001 | Plant Soil2001，232，： | 1 |
| 13 | Genetic diversity and biological variation among California isolates of Cucumber mosaic virus显示文摘 | Lin H X Rubio L Smythe A B | 2003 | Journal of General Virology2003，84，： | 1 |
| 14 | Formation of 8- nitroguanine in DNA treated with peroxynitrite in vitro and its rapid removal from DNA by depurinatian显示文摘 | Yennilov V Rubio J Ohshima H | 1995 | FEBS Lett1995，376，3： | 1 |
| 15 | Sorption of heavy metal ions by the nonliving biomass of freshwater macrophytes 显示文摘 | Schneider I A H Rubio J | 1999 | Environmental Science & Technology1999，33，： | 1 |
| 16 | Characterization and environmental application of a Chilean natural zeolite 显示文摘 | Engtert A H Rubio J | 2005 | Int J Miner Process2005，75，12： | 1 |
| 17 | Correlation between the levels of circulating adhesion molecules and atherosclerosis in type-2 diabetic normotensive patients:circulating adhesion molecules and atherosclerosis显示文摘 | Rubio Guerra AF Vargas Robles H Serrano AM | 2009 | Cell Adh Migr2009，3，4： | 1 |
| 18 | Gravitropic response of bean root system to phosphorus deficiency Lynch J P,Deikman显示文摘 | Liao H Rubio G Yan X | 1999 | phosphorus in Plant Biology:Regulatory Roles in Molecular Cellular Organic and Ecosystem Processes[C] Maryland:American Society of Plant Physiologists1999，1999，： | 1 |
| 19 | Characterization and enviromnental application of a Chilean natural zeolite显示文摘 | Rubio J | 2005 | International Journal of Mineral Processing2005，75，12： | 1 |
| 20 | Refractory hiccup:successful treatment with gabapentin 显示文摘 | Alonso Navarro H Rubio L Jim nez Jim nez FJ | 2007 | Clin Neuropharmacol2007，30，3： | 1 |
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