Page 75 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
aBad-morales V, domènech eB, garanto a, marFanY g. mRNA expression analysis of the SUMO pathway genes in the adult mouse retina. Biology Open 2015; 4(2):224- 232.
Marfany G, Gonzàlez-Duarte R. Clinical applications of high-throughput genetic diagnosis in inherited retinal dys- trophies: Present challenges and future directions. World J Med Genet. 2015; 5(2):14-22.
Boloc d, castillo-lara s, marFanY g, gonZàleZ-duarte r, aBril JF. Distilling a visual network of Retinitis Pigmen- tosa gene-protein interactions to uncover new disease candidates. PLoS One 2015; 10(8):e0135307.
masoumi Kc, marFanY g, Wu Y, massoumi r. Putative role of SUMOylation in controlling the activity of deubiquitinat- ing enzymes in cancer. Fut Oncol 2016; 12(4):565-74.
Highlights
The research activity of the group U718 has been centered in the genetic and functional study of in- herited retinal dystrophies (IRDs). One of our re- search topics aims to identify novel genes and devise efficient genetic diagnostic tools. This is achieved by merging in-house SNP-chips, whole ex- ome sequencing (WES) and optimized bioinformatic analysis. Concerning the functional analysis of IRD causing genes, mainly CERKL and NR2E3, the group has focused the research on the generation of cellu- lar and animal models.
Along 2015, the group has not only performed WES to identify the disease causing gene in RD families, but implemented a web-interactive tool, RPGnet, available to researchers that gathers all the bio- chemical, molecular and genetic data for 110 ma- jor IRD genes. This information allows to unveil new hubs in celular pathways, identifiy the proteins involved and so inspire the identification of novel clues to highlight unexpected functional retinal can- didates for therapy.
A research line dealing with primary retinal cell cul- tures and organotypic cultures of murine retinas has been devised and the tisular transfection strategies have been improved. The assays in primary cell cul- tures nicely complement the functional assays that we are gathering through the study of animal mod- els, among those, zebrafish with morpholino silenc- ing approaches, and knockdown (through the Cre/ LoxP approach) and knockout through the CRISPR/ Cas methodology.
Funding: SAF2013-49069-C2-1-R (2014-2016) and La Marató TV3 (2014-2017), award with the rec- ognition of a competitive research group under the Generalitat de Catalunya (SGR2014-0932). Six PhD research students are now supervised in the group.
Institution: Universitat de Barcelona · Contact: Facultad de Biología. Diagonal, 643. 08028 Barcelona Tel.: 93 402 10 34 / 93 403 55 29 · E.mail: [email protected]
Website: http://www.ub.edu/genetica/humanaen/gonzalez.htm
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