Page 115 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
de cima s, Polo lm, díeZ-FernándeZ c, martíneZ ai, cerVera J, Fita i, ruBio V. Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagen- esis. Sci Rep. 2015 Nov 23;5:16950. doi: 10.1038/srep16950.
PanZa e, escamilla-honruBia Jm, marco-marín c, gougeard n, de michele g, morra VB, liguori r, salViati l, donati ma, cusano r, PiPPucci t, raVaZZolo r, németh ah, smithson s, daVies s, hurst Ja, Bordo d, ruBio V*, Seri M* (senior co-authors; equal leadership). ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. Brain. 2016 Jan;139(Pt 1):e3. doi:10.1093/ brain/awv247. Epub 2015 Aug 21.
Díez-Fernández C, Gallego J, Häberle J, Cervera J, Rubio V. The Study of Carbamoyl Phosphate Synthetase 1 Deficien-
Highlights
PROJECTS:
- MICIN BFU2011-30407, Plan Nacional I+D+I, “Luz estructural sobre señalizacion y regulacion por nitrog- eno y sobre biosintesis de arginina/urea, sus errores congenitos, y su conexion con biologia del envejeci- miento” (PI, Vicente Rubio), extended till 30/06/2015.
- PrometeoII2014/029 (Generalitat Valenciana) “Genes, Proteínas y Rutas de señalización en Enfer- medades Raras” (V. Rubio), extended till 31/12/2015.
- MINECO BFU2014-58229-P, Plan Nacional I+D+I “Una mirada molecular al control de la detoxificación de amonio y a sus patologías y errores congénitos, y a la señalización por nitrógeno. En busca del papel de la proteína CutA” (01/01/2015-31/12/2017; PI V. Rubio), has been awarded.
- MECD, PRX 14/00433 “Bases moleculares de la señalización por dUTPasas: estructura tridimensional a resolución atómica de macrocomplejos señaliza- dores mediante crio-microscopía electrónica de alta resolución” (1/4/2015-30/09/2015; PI, A. Marina) was awarded.
- AORG/2015/112 (Generalitat Valenciana; PI: Vicente Rubio; 12.000 €), to organize the XXXVIII Congress of the Sociedad Española de Bioquímica y Biología Molecular (Valencia, 7-10/09/2015, presided by V.
cy Sheds Light on the Mechanism for Switching On/Off the Urea Cycle. J Genet Genomics. 2015 May 20;42(5):249-60. doi: 10.1016/j.jgg.2015.03.009. Epub 2015 Apr 1. PubMed PMID: 26059772.
nguYen le minh P, de cima s, BerVoets i, maes d, ruBio V, charlier d. Ligand binding specificity of RutR, a member of the TetR family of transcription regulators in Escherichia coli. FEBS Open Bio. 2015 Jan 28;5:76-84. doi: 10.1016/j. fob.2015.01.002. eCollection 2015. PubMed PMID: 25685666; PubMed Central PMCID: PMC4325133.
Bem ae, VeliKoVa n, Pellicer mt, Baarlen PV, marina a, Wells Jm. Bacterial histidine kinases as novel antibacteri- al drug targets. ACS Chem Biol. 2015 Jan 16;10(1):213-24. doi: 10.1021/cb5007135.
Rubio), including one Symposium on Rare Deseases (together with CIBERER), a group meeting on “Molec- ular Bases of Pathology”, and a satelite meeting with patients on “Retinal distrophies: knowing them for curing them)” (together with FUNDALUCE).
CONTRACT: To improve biosynthesis of gaxilose for hipolactasia diagnosis. With Interquim S.A.: Im- proving biocatalysts to synthesize pharmaceutically intersting oligosacharides (1/11/2015-30/10/2016; PI A.Marina).
RESULTS: that stand out include the determination of the structure of human CPS1, whose inborn errors cause hyperammonemia, the characterization of the effects of patient’s mutations mapping in the regula- tory domain of CPS1, and the identification of muta- tions in the gene encoding P5CS that cause dominant spastic paraplegia and the propodsal of a plausible structure-based disease mechanism for negative dominance.
OTHER ACHIEVEMENTS: The XXXVIII SEBBM Con- gress took place under V. Rubio’s presidency, with 800 delegates, 500 posters,13 plenary lectures, 150 oral comunications and 7 satelites.
Chapter on Hyperammonemia of the Saudubray book on Inherited Metabolic disorders was written by J Häberle & V. Rubio.
Institution: Agencia Estatal Consejo Superior de Investigaciones Científicas
Contact: Institituto de Biomedicina de Valencia · Jaume Roig, 11. 46010 Valencia · Tel.: 96 339 17 74 E.mail: [email protected] · Website: http://www3.ibv.csic.es/index.php/es/investigacion/genomica/uee
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