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Most relevant scientific articles
• Hu l, Diez-FernanDez c, rüFenacHt V, Hismi bö, ünal ö, soyucen e, ÇoKer m, bayraKtar bt, GunDuz m, KiyKim e, olGac a, pérez-tur J, rubio V, Häberle J . Recurrence of carbamoyl phosphate synthetase 1 (CPS1) de- ficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression . Mol Genet Metab . 2014;113(4):267-273 .
• Díez-FernánDez c, Hu l, cerVera J, Häberle J, rubio V . Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function . Mol Genet Metab . 2014;112:123-132 .
• casino p, miGuel-romero l, marina a . Visualizing autophosphorylation in histidine kinases . Nat Com- mun . 2014;5:3258 .
• Häberle J, rubio V . Hyperammonemia and related disorders . In: Blau N, Durán R, Gibson KM, Blaskovics M and Dionisi-Vici C, eds . Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases . Heidelberg: Springer -Verlag; 2014 . pgs . 47-62
• sanJurJo p, rubio V . Diagnóstico y tratamiento de las enfermedades del ciclo de la urea . En: Sanjurjo P, Balldellou A, eds . Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias . 4a ed . Majadahonda, Madrid: Ergon; 2014 . pgs . 713-728 .
Highlights
Institution: Agencia Estatal Consejo Superior De Investigaciones Científicas Contact: CSIC / Instituto de Biomedicina de Valencia · C/ Jaime Roig . 11 · Tel .: (+34) 96 339 17 72 E .mail: rubio@ibv .csic .es · http://www3 .ibv .csic .es/index .php/es/investigacion/genomica/uee
The five publications selected aim at reflecting different lines of our action within CIBERER, rather than bibliographic impact factors . They try to exemplify basic advances (Nature Communications paper), translational science (see both papers in Molecular Genet Metab) and plain translation of international reach (chapter of the paradigmatic Blau book on Inherited Metabolic Diseases) and of hispanic reach (chapter in the Spanish bible on inborn metabolic errors, the book edited by Sanjurjo) . I will highlight here that our commitment and experience on urea cycle disorders and of structure-function studies (based on our abilities on crystallography and on recombinant protein expression) has focused this year on cracking carbamoyl phosphate synthetase deficiency (a urea cycle disorder) . Our initial breakthough of 2013, the in vitro expression of abundant and highly pure human carbamoyl phosphate synthetase 1 (CPS1), has enabled us to attack this year the experimental study in collaboration with the most important clinical group in Europe for CPS1 deficiency (led by Prof . Johannes Häberle, Hospital Pediátrico de Zürich) of the consequences of the numerous clinical mutations found in patients with CPS1 deficiency . This translational research activity of our group is in its high, and is bound to give further highly relevant clinical and scientific fruits in 2015, with one paper accepted already, a PhD Thesis deposited which has as exclusive subject CPS1 deficiency, and another two papers on this disorder at the writing stage, one of them a great structural breaktrough of high translational relevance . All of this stems from our activity in 2014 . The group is involved in the current updating of our prior European clinical guideline on urea cycle disorders; in preparing the AECOM’s (Asociación Española sobre Errores Congénitos del Metabolismo) guide on inborn hyperammonemia; and is working very actively on translational studies on pyrrolin-5-carboxylate synthetase and acetilglutamate synthase deficiencies .
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