Page 141 - MemoriaER-Eng

www.ciberer.es

• a M., t a., r c s. l o. Structural basis for the
Most relevant lcorloortaJadaodríGuezde órdobaand lorca
stabilization of the complement alternative pathway C3 convertase by properdin.
scientific Proc Natl Acad Sci USA. 110:13504-9 (2013).

articles
• PickerinG Mc., d’aGati Vd., nester c., sMith rJ., haas M., aPPel Gb., alPers ce., baJeMa
iM., bedrosian c., braun M., doyle M., Fakhouri F., FerVenza Fc., FoGo ab., FréMeauX-

bacchi V., Gale dP., Goicoechea de JorGe e., GriFFin G., harris cl., holers VM., Johnson
s., laVin PJ., MedJeral-thoMas n., MorGan bP., noel lh., Peters dk., rodríGuez de córdoba

s., serVais a., sethi s., sonG Wc., taMburini P., thurMan JM., zaVros M. and Cook HT.
C3 Glomerulopathy: consensus report. Kidney International. 84:1079-89 (2013).

• t a., y h., a-G c., a J., G-F JM., M-
ortaJadaébenesbarrateGuiarridonterarcíaernándezartínez
barricarte r., alba-doMínGuez M., Malik th., bedoya r., cabrera Pérez r., lóPez trascasa
M., P Mc., h cl., s-c P., l o. r c s.
ickerinGarrisánchezorrallorcaand odríGuezde órdoba
C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and com-
plement regulation. J Clin Invest. 123:2434-2446 (2013).

• bresin e., rurali e., caPrioli J., sanchez-corral P., FreMeauX-bacchi V., rodríGuez de cór-
doba s., Pinto s., GoodshiP th., alberti M., ribes d., Valoti e., reMuzzi G., noris M.; on íí

behalf of the European Working Party on Complement Genetics in Renal Diseases.
Combined complement gene mutations in atypical hemolytic uremic syndrome in-

fluence clinical phenotype. J Am Soc Nephrol 24:475-486 (2013).
é

• caMPistol JM., arias M., ariceta G., blasco M., esPinosa M., Grinyó JM., PraGa M., torra r.,
V r. rí c s. An update for atypical haemolytic uraemic sín-
ilaltaand odrGuezde órdoba
drome: diagnosis and treatment. A consensus document (Actualización en síndrome
hemoltico urmico atípico: diagnóstico y tratamiento. Documento de consenso) Ne-

frologa 33:27-45 (2013).

Within the basic research activities of the group, during 2013 we have provided funda-
Highlights
mental insights in the understanding of the pathogenic mechanisms of rare diseases
associated with deregulation of the complement system describing, in a paper publis-

hed in PNAS, how properdin stabilizes the convertase C3 of the alternative pathway,

and in another paper, published in JCI, which is the role of the proteins related to
factor H ( FHRs) in C3 glomerulopathy . The relevance of this last work has merited

an editorial article highlighting its importance, both for the clinic and basic research.

In parallel, we have continued our basic research activity on the molecular basis
of Lafora disease using animal models. Here we generated results that delimit the

etiopathogenic factors to a defect in the mechanisms of intracellular proteolysis. A
report with these results, accepted for publication in Brain on November 2, 2013, will

be published in 2014 and will be accompanied by an editorial article highlighting its

importance.

The group has also developed a strong translational activity designing and implemen-
ting a NGS gene panel for the screening of genes associated with rare pathologies 13
20
related to complement deregulation. In addition, the group has participated in the T
generation of clinical guidelines for the diagnosis of these pathologies and continued OR
P
the management of the registry of patients with aHUS and C3G by the constitution of RE
a working group on complement and renal pathology with the participation of clinical L
A
and basic researchers.
NU
N
Regarding technology transfer, we have continued our work on the development of A
R /
therapies with potential application in rare diseases related with deregulation of com- E
plement, generating a battery of monoclonal antibodies with complement inhibitory ER
B
activities. One result of this activity has been the generation of a patent to protect an CI
anti human factor B that effectively inhibits activation of the alternative complement

pathway.
141