Page 127 - MemoriaER-Eng

www.ciberer.es

• Differential cystine and dibasic amino acid handling after loss of function of the amino
Most relevant
acid transporter b0,+AT (Slc7a9) in mice. di GiacoPo a, rubio-aliaGa i, cantone a, ar-
scientific F, r r, F-W i, F-l M, G n, s G, J i, M
tunc eXhePaJreyaGnerontlitJósehrinGtanGeaeneckeohebbi
articles
n, closs ei, Palacín M, nunes V, daniel h, lanG F, caPasso G, WaGner ca. Am J Physiol
Renal Physiol. 2013 Dec 15;305(12):F1645-55. doi: 10.1152/ajprenal.00221.2013.

Epub 2013 Oct 9.

• EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome
and Bardet-Biedl syndrome. F a, a s, h Ml, M P, Mc s,
arMeryMéde erediaaFFeicaFFerty
MłynaRsKi W, nunEs V, PaRKinson K, Paquis-fluCKlingER V, RohayEM J, sinnott R, tillMann

V, tranebJaerG l, barrett tG. BMC Pediatr. 2013 Aug 27;13:130. doi: 10.1186/1471-
2431-13-130.

• Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper

activation of volume-regulated anion currents. caPdeVila-nortes X, lóPez-hernández t,
aPaJa PM, lóPez de heredia M, sirisi s, calleJo G, arnedo t, nunes V, lukacs Gl, Gasull X,

estéVez r. Hum Mol Genet. 2013 Nov 1;22(21):4405-16. doi: 10.1093/hmg/ddt290.
Epub 2013 Jun 20.
í

• Protein kinase CK2-dependent phosphorylation of the human Regulators of Calcineu-

rin reveals a novel mechanism regulating the calcineurin-NFATc signaling pathway.
Martnez-høyer s, aranGuren-ibáñez a, García-García J, serrano-candelas e, Vilardell

J, nunes V, aGuado F, oliVa b, itarte e, Pérez-riba M. Biochim Biophys Acta. 2013
Oct;1833(10):2311-21. doi: 10.1016/j.bbamcr.2013.05.021. Epub 2013 Jun 1.

• Genotypic classification of patients with Wolfram syndrome: insights into the natural

history of the disease and correlation with phenotype. de heredia Ml, clèries r, nunes V. ö
Genet Med. 2013 Jul;15(7):497-506. doi: 10.1038/gim.2012.180. Epub 2013 Feb 21.

During 2013, the team has obtained a new project, FIS: PI13/00121, has initi-
Highlights
ated the project from ELA foundation 2012-014C2B, and kept on working on the
EUROWABB (EAHC- 20101215) and SGR projects (SGR 2009-1490). It has also

participated in the exome sequence project within the CIBERER.

The group main topics are:

• Wolfram Syndrome: During 2013 we published a clinical-genetic association
analysis on 400 patients which proposes a new patient classification based

on their genotype. We have also provided new data on the natural history of

the disease. We have kept on working in the relation between symptoms and
the genotypic classes assigned according to the paper. We have kept working

within EURO-WABB that resulted in multiple congress communications, to the

publication of clinical guidelines ant to the publication of 1 paper.

• MLC: We have published demonstrating the role of GlialCAM as MLC1 chaperone
which is needed to regulate the anionic currents involved in volume regulation.

We kept characterizing the KO mice model generated for this disease which has 13
20
been published by beginning 2014.
T
OR
• Heteromeric amino acid transporters: We have characterized the mice KO models P
for LAT2 and LAT2/TAT1. LAT 2 is responsible for glutamine efflux in muscle RE
L
(unpublished data). We have also studied the involvement of LAT 2 and TAT1 A
NU
in amino acid reabsorbtion in kidney as well as their relation with other amino N
acid transporters. A paper studied the mice KO b0,+AT for has been published.
A
R /
CLINICAL GUIDELINES: we have participated in the clinical guidelines for Wolfram, E
ER
Bardet-Biedl and Alstrm syndromes which have been published, within EURO- B
CI
WABB project.

The group also performed genetic diagnostic in families with LPI and cystinuria for 127
the genes SLC3A1, SLC7A9, SLC7A7.