Page 145 - MemoriaER-Eng

www.ciberer.es

• G-G s, r a, M-J Mi, c es, M s, t G, P c,
arcíaóMezeyesartíneziMénezhocrónourónerradosoWellMost relevant
salido e, Méndez J, holt iJ, blanco l. PrimPol, an archaic primase/polymerase operating in
scientific
human cells. Mol Cell. 2013 Nov 21;52(4):541-53. doi: 10.1016/j.molcel.2013.09.025.
articles
Epub 2013 Oct 24. PubMed PMID: 24207056; PubMed Central PMCID: PMC3899013.

• Mesa-torres n, Fabelo-rosa i, riVerol d, yunta c, albert a, salido e, Pey al. The role

of protein denaturation energetics and molecular chaperones in the aggregation and
mistargeting of mutants causing primary hyperoxaluria type I. PLoS One. 2013 Aug

27;8(8):e71963. doi: 10.1371/journal.pone.0071963. eCollection 2013. PubMed PMID:
24205397; PubMed Central PMCID: PMC3796444.

• P al, a a, s e. Protein homeostasis defects of alanine-glyoxylate amino-
eylbertalido
transferase: new therapeutic strategies in primary hyperoxaluria type I. Biomed Res
Int. 2013;2013:687658. doi: 10.1155/2013/687658. Epub 2013 Jul 16. Review. Pub-

Med PMID: 23956997; PubMed Central PMCID: PMC3730394.

• hernández-Guerra M, de Ganzo za, González-Méndez y, salido e, abreu P, Moreno M, FeliPe

V, abrante b, quintero e. Chronic intermittent hypoxia aggravates intrahepatic endothe-
lial dysfunction in cirrhotic rats. Hepatology. 2013 Apr;57(4):1564-74. doi: 10.1002/

hep.26152. PubMed PMID: 23174804.

• beck bb, baasner a, buescher a, habbiG s, reintJes n, keMPer MJ, sikora P, Mache c, Pohl
M, s M, t b, P l, F h, J de, G b, W Mt, n G,
tahloenshoFFaPeehrenbachacobroheolFürnberG
yiGit G, salido ec, hoPPe b. Novel findings in patients with primary hyperoxaluria type
III and implications for advanced molecular testing strategies. Eur J Hum Genet. 2013

Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11. PubMed PMID:
22781098.

ó
We are a small group, very focussed on a single topic: inborn errors of glyoxylate
Highlights
metabolism, financed by a single grant: SAF2011-23933.

Our most relevant contributions have been on molecular therapies for primary
hyperoxaluria (PH) using mouse models developed by us. We have also used our ñ

experimental pathology expertise in fruitful collaborations with other groups work-

ing on DNA polymerases and liver disease. During 2013, we have achieved a
deeper understanding of the protein homeostasis defects involved in PH type I as a

basis for rational therapeutic approaches with pharmacochaperones. We have also
tested the potential of cell therapy as a bridge solution for patients at high risk of

death due to primary hyperoxaluria. In addition, we have developed novel mouse

models to identify safe and efficient targets for substrate reduction therapy in PH.

We are also a national and partly international (Latin America and North Africa)
referral center for the diagnosis and clinical advice of inborn errors of glyoxylate

metabolism. During 2013, we have diagnosed and/or adviced on 16 clinical cases

for these rare diseases.
13
We serve in international committees for the study of PH, including the scien- 20
tific advisory board of patient associations such as the Oxalosis and Hyperoxaluria T
OR
Foundation and the Asociacin Espaola para el Estudio de las Glucogenosis.
P
RE
L
A
NU
N
A
R /
E
ER
B
CI

145