Page 135 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
PéreZ-rius c, gaitán-Peñas h, estéVeZ r, Barrallo-gi- meno a. Identification and characterization of the zebraf- ish ClC-2 chloride channel orthologs. Pflugers Arch. 2015 Aug;467(8):1769-81. doi: 10.1007/s00424-014-1614-z. Epub 2014 Sep 20. PubMed PMID: 25236920.
Barrallo-gimeno a, gradogna a, Zanardi i, Pusch m, estéVeZ r. Regulatory-auxiliary subunits of CLC chlo- ride channel-transport proteins. J Physiol. 2015 Sep 15;593(18):4111-27. doi: 10.1113/JP270057. PubMed
terminants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy. J Physiol. 2015 Sep15;593(18):4165-80. doi: 10.1113/ JP270467. Epub 2015 Jun 23. PubMed PMID:26033718; PubMed Central PMCID: PMC4594291.
Vindas-smith r, Fiore m, VásqueZ m, cuenca P, del Valle g, lagostena l,gaitán-Peñas h, esteVeZ r, Pusch m, morales F. Identification and Functional Characteri- zation of CLCN1 Mutations Found in Nondystrophic My-
PMID:25762128; PubMed Central PMCID: PMC4594287.
caPdeVila-nortes x, JeWorutZKi e, elorZa-Vidal x, Barrallo-gimeno a, Pusch m, estéVeZ r. Structural de-
Highlights
During this year (2015) we have obtained funding from the present projects:
• E-Rareeuropeanproject:CLCchloridechannels& megalencephalic leukoencephalopathy.
• ELA Research Foundation: MLC disease: identifi- cation of proteins which could modulate the dis- ease phenotype.
• AFM: Development and characterization of ze- brafish models of myotonia congenita.
• ICREAAcademiaprizeforRaúlEstévez.
• Grupo consolidado de la Generalitat (SGR).
• ProjectSAF2012-31486delMICINN.
• Donationfromaspanishfamiolyaffectedbyme- galencephalic leukoencephalopathy.
• ResearchcontractwiththecompanyMeddayto test a compound in a mice model of Megalence- phalic leukoencephalopathy.
otonia Patients. HumMutat. 2016 Jan;37(1):74-83. doi: 10.1002/humu.22916. Epub 2015 Oct 28. PubMed PMID: 26510092.
During this year, in the context of MLC disease we have gained new insights about the structure-func- tion relationship of the GlialCAM molecular and the modulation of the functional properties of the chlo- ride channel ClC-2. This work resulted in a publica- tion in Journal of Physiology, where we also con- tributed ClC-2 chloride channels in zebrafish, which allowed us to choose what was the better isoform to perform a knockout model in the fish. In this year, we have obtained new information about the mo- lecular basis of mutations in the genes ClC.1 and ClC-2. The mutations in ClC-1 have been published in Human Mutation and we are rewriting an article about mutations in ClC-2 for Human Mutation. Fi- nally, in this year 2015, we have been working with the volume-regulated chloride channels LRRC8, and we submitted an article to Nature Communications at the end of January 2016.
Institution: Universitat de Barcelona · Contact: Facultad de Medicina · C/ Casanova 143. 08036 Barcelona Tel.: 93 403 97 81 · E.mail: [email protected]
CIBERER I Annual report 2015 I 135