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www.ciberer.es

• d-F c, M ai, P s, b b, P-a i, G aM,
Most relevant iezernándezartínezekkalaarcelonaérezrellanouadalaJara
suMMar M, cerVera J, rubio V. Molecular characterization of carbamoyl-phosphate
scientific synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool. Hum

articles
Mutat. 2013 Aug;34(8):1149-59.

• Vitoria i, dalMau J, ribes c, rausell d, García aM, lóPez-Montiel J, rubio V. Citrin de-

ficiency in a Romanian child living in Spain highlights the worldwide distribution of
this defect and illustrates the value of nutritional therapy. Mol Genet Metab. 2013

Sep-Oct;110(1-2):181-183.

• Gozalbo-roVira r, rodríGuez-díaz J, saus J, cerVera J. Precise mapping of the Goodpas-
ture epitope(s) using phage display, site-directed mutagenesis, and surface plasmon

resonance. Kidney Int. 2013 Mar;83(3):438-445.

• GalleGo del sol F, Marina a. Structural basis of Rap phosphatase inhibition by Phr
peptides. PLoS Biol. 2013;11(3):e1001511.

• t-M Má, d J, G-c M, a a, M-s i, M a, P Jr.
orMoásonderisarcíaaballerltiranchisarinaenadés
Phage dUTPases control transfer of virulence genes by a proto-oncogenic G protein-

like mechanism. Mol Cell. 2013 Mar 7;49(5):947-58.

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Highlights
The group, supported by 5 grants (Spanish National Plan, Valencian Government,
Alicia Koplowitz Foundation), participated in two EU projects (E-IMD/DG-SANCO; ó

and Marie Curie network) and published 9 international journals papers, repor-

ting the first in vitro expression system for human carbamoyl-phosphate sinthe-
tase (CPS1), opening the way for testing the disease-causing nature of CPS1

deficiency-associated mutations; describing (colaboration with Hospital La Fe) the

first case in Spain of citrin deficiency, an extremely rare condition in the western
world, proving the efficacity of hyperproteic diet, which would be counterindicated

in other urea cycle disorders, and highlighting the need for awareness; identifying
the epitope of Goodpasture syndrome (a rare autoagressive syndrome), basing

future drug development for this condition; and characterizing structurally signa-

ling systems such as a novel one based on moonlighting by the enzyme dUTPase,
with implications in colorectal non-polipose hereditary cancer and for antibacte-

rials development (valuable for cystic fibrosis).

Jointly with two other CIBERER groups and UCD and E-IMD American and Euro-

pean consortia, we co-organized the 4th international Symposium on Urea Cycle
Disorders (Barcelona, 1-3 Septiembre, 2013), and delivered an oral major talk. We

brought three panels to the International Congress on Inherited Errors of Metabo-
lism (ICIEM2013). V.Rubio was professor in the SHARE Symposium (Amsterdam;

Orphan Europe) for training on hyperammonemia. Co-author of two chapters of

the book “Diagnstico y tratamiento de las enfermedades metabólicas heredita-
rias” (Sanjurjo/Balldellou/Ugarte eds; editorial Ergon) and, with J.Häberle, of the

chapter “Hyperammonemias and related disorders” of the “Physician’s Guide to 13
20
the Diagnosis, Treatment and Follow-Up of Inherited Metabolic Diseases” (Blau/ T
Duran/Gibson/Dionisi-Vici,eds.; de Springer). Both books will appear in 2014. The OR
P
European Guideline on Urea Cycle Diseases (2012; V. Rubio was an autor) has RE
based the gude for professionals and the leaflets for patients (we collaborated in L
A
the spanish version) found in the E-IMD page (www.e-imd.org).
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