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• a P, a V, P-a a, M-G aa, G-M Mi, r-r
Most relevant lFonsondreuinonGelesoyaarcíaarcíaorenoodríGuezey
Jc, sánchez-JiMénez F, PocoVí M, ortiz Mellet c, García Fernández JM, Giraldo P. Bicy-
scientific clic derivatives of L-idonojirimycin as pharmacological chaperones for neuronopathic

articles
forms of Gaucher disease. ChemBiochem. 2013 May 27;14(8):943-9. doi: 10.1002/

cbic.201200708. PMID: 23606264.

• García-caballero M, Marí-beFFa M, cañedo l, Medina Má, quesada ar. Toluquinol, a mari-
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• reyes-PaloMares a, rodríGuez-lóPez r, ranea Ja, sánchez JiMénez F, Medina Ma. Glo-
bal analysis of the human pathophenotypic similarity gene network merges di- í
á
sease module components. PLoS One. 2013;8(2):e56653. doi: 10.1371/journal.

pone.0056653. PMID: 23437198.

• snchez-JiMénez F, ruiz-Pérez MV, urdiales Jl, Medina Ma. Pharmacological potential of
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The CIBERER unit 741 belongs to the área of “Medidina Metabólica Hereditaria” í
Highlights
and to the CIBERER Bioinformatic Platform (BIER). With respect to internal colla-
borative work, it is worth mentioning the collaborative work (U741-U752) publis-

hed in ChemBioChem (2013) on the development of a potential pharmacological

chaperone against Gaucher’s disease, previously patented. As BIER members,
we developed PhenUMA, an on-line free platform to build integrative networks on

gene-phenotype-diseases relationships (www.phenuma.uma.es), It is being used

by an increasing number of basic and clinic groups inside and outside CIBERER. A é
tutorial workshop for PhenUMA was also organized. Their authors have been awar-

ded by Andalusia government for this initiative and its development. In relation
with these activities we have contributed to several scientific meetings.

Thirteen publications were dated during 2013 with impact factor average over 4,

most of them being in the first 25% of the ranking of different biomedical JCR

areas and related to orphan diseases. Two european patents are dated 2013 (prio-
rity date), EP13382130.6 and EP13382284.1, under explotaitation by Instituto

Biomar S.A. and Drugs Discovery S.L., respectively. Both of them are protecting

potential angiogenesis modulators.

At present, the team is awarded by 3 regional grants, another 3 National Health
Program Grants (mainly including specific aims on orphan diseases). We are also

involved in two european networks and keep two contracts with private compa- 13
nies, both related to orphan diseases.
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Two PhD has been defended during 2013 in relation to U741 activities (Melisa Gar- OR
P
ca-Caballero y Mara Victoria Ruiz-Prez). Their results are interesting for orphan RE
L
diseases related to angiogenesis and for low prevalent tumors as, for instance, A
pediatric neuroblastomas.
NU
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Our results were communicated in more than 10 Congresses (in more than 5 A
R /
occasions as invited/selected speakers). In addition, we have participated in di- E
fferent activities of training, promotion and diffusion of biocomputational solutions ER
B
applied to orphan diseases.
CI

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