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Most relevant scientific articles
• Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans . sirisi s, FolGueira m, lópez-HernánDez t, minieri l, pérez-rius c, Gaitán-peñas H, zanG J, martínez a, capDeVila-nortes x, De la Villa p, roy u, alia a, neuHauss s, Ferroni s, nunes V, estéVez r, barrallo-Gimeno a . Hum Mol Genet . 2014 Oct 1;23(19):5069-86 . doi: 10 .1093/hmg/ddu231 . Epub 2014 May 12 . (PMID:24824219)
• Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactiva- tion . núñez b, martínez De mena r, obreGon mJ, Font-llitJós m, nunes V, palacín m, Dumitrescu am, morte b, bernal J .PLoS One . 2014 May 12;9(5):e96915 . doi: 10 .1371/journal .pone .0096915 . eCollection 2014 . (PMID:24819605)
• Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients .García-cazorla a, oyarzabal a, Fort J, robles c, casteJón e, ruiz-sala p, boDoy s, merinero b, lopez-sala a, Dopazo J, nunes V, uGarte m, artucH r, palacín m, roDríGuez-pombo p, alcaiDe p, naVarrete r, sanz p, Font-llitJós m, Vilaseca ma, ormaizabal a, pristoupiloVa a, aGu- lló sb . Hum Mutat . 2014 Apr;35(4):470-7 . doi: 10 .1002/humu .22513 . Epub 2014 Mar 5 .(PMID:24449431)
• Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dys- function . HoeGG-beiler mb, sirisi s, orozco iJ, Ferrer i, HoHensee s, auberson m, GöDDe K, VilcHes c, De HereDia ml, nunes V*, estéVez r*, JentscH tJ* (*Sharing corresponding authorship) Nat Commun . 2014 Mar 19;5:3475 . doi: 10 .1038/ncomms4475 . (PMID:24647135)
Highlights
Institution: Fundación IDIBELL Contact: IDIBELL Hospital Duran i Reynals · Gran Vía, Km 2,7 08907 L’Hospitalet de Llobregat . Barcelona Phone: (+34) 93 260 74 06 / 93 260 75 00 Ext: 3327
During the year 2014 we have continued working in our three lines of research on rare diseases: Wolfram Syndrome, Cystinuria and Megalencephalic Leukoencephalopathy with Subcortical cysts (MLC), in two of them in collaboration with other CIBERER units . We have created and participated respectively in the creation of the Spanish and European registries for the syndromes of Bardet-biedl, Alstrom and Wolfram . We are members of the international consortium for the advancement in the syndrome of Wolfram, sponsored by the French Association for 6 years . We have been until June 2014 Spanish partner of a European project (EURO-WABB), we have actively participated in the generation of guidelines for these syndromes and in the update of the entry for Wolfram Syndrome in Orphanet .
We have worked on the development of a functional assay, in which we are already working, to test the pathogenicity of different mutations in the WFS1 gene . Since last year we have continuing developing our FIS project which aim is to demonstrate the possible therapeutic role of a molecule with characteristics for modulating lithiasis of cystine in patients with Cystinuria using our murine Knockout model Slc7a9-/- . . We have characterized the animal model for other amino acids transporter, LAT-2, as well as its interaction with another amino acid transporter TAT1 .We have participated in the elaboration of clinical guidelines for Cystinuria .
We keep on working in a project of the ELA Research Foundation which aim is to identify MLC 1 partners using the Mlc1 Knockout mouse model we have generated . We want to highlight a recent collaboration with MedDay Pharmacueticals to carry out a pilot trial to test a molecule as a possible therapy for MLC in this model . In two of the three projects we work actively on the lines proposed by Horizon 2020 trying to identify molecules with therapeutic effect .
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