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Most relevant scientific articles
• Gayarre J*, Duran-trío, l.*, criaDo Garcia o.*, aGuaDo c, Juana-lópez l., crespo i., KnecHt e., boVolenta p . and Rodríguez de Córdoba S . (2014) The glycogen phosphatase activity of laforin is dispensable to rescue the Lafora disease phenotype of Epm2a-/- mice . Brain 137, 806-18 . (Comment in Brain 137, 646-648)
• conte i, merella s., Garcia manteiGa Jm, miGliore c., lazareVic D., carrella s, marco-Ferreres r., aVellino r., emmett W., sanGes r., bocKett n., Van Heel D., meroni G., boVolenta p., banFi s., stupKa e . (2014) The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neu- rogenesis and axon guidance . Nuc . Acid Res . 42, 7793-806 .
• carDozo m., sáncHez-arrones l., sanDonis a., sáncHez-camacHo c., Gestri G., Wilson sW, Guerrero, i . and Bovolenta P . (2014) Cdon acts as a Hedgehog decoy receptor during proximal-distal patterning of the optic vesicle . Nature Comm . 5:4272 . doi: 10 .1038/ncomms5272 . (Selected in The Faculty of 1000)
• caVoDeassi F anD boVolenta p . (2014) New functions for old genes: Pax6 and Mitf in eye pigment bioge- nesis . Pigment Cell & Melanoma Res . 27, 1005-1007 .
• boVolenta, p., Gorny, a., esteVe p. anD steinbeisser, H . (2014) . Secreted Wnt inhibitors or modulators . Chapter 13 in “Wnt Signaling in Development and Disease: Molecular Mechanisms and Biological Functions . Stefan Hoppler and Randall T Moon, Editors .
Highlights
Institution: Agencia Estatal Consejo Superior de Investigaciones Científicas Contact: Phone: (+34) 91 196 4718 office - 91 196 4718 lab · E .mail: pbovolenta@cbm .csic .es http://web4 .cbm .uam .es/joomla-rl/index .php/es/index .php?option=com_content&view=article&id=408
Our group investigates the mechanisms that control the early development of the vertebrate nervous system, mostly focusing on the visual system . We are particularly interested in those aspects that may help pinpointing the causes of congenital malformations or those related to the onset of neurodegenerative diseases . During this period, we have identified a new role for Boc and Cdon, two cell adhesion molecules that bind the morphogen Shh . During eye development these molecules are mostly localised to the basal end-foot of neuroepithelial cells favouring the enlargement of the basal site and the formation/ stabilization of filopodial-like processes . In this location, Cdon and Boc act as Shh decoy receptors, limiting the effects of this morphogen . Loss of Cdon function leads to coloboma in zebrafish, suggesting that this gene Could be a new candidate for this congenital malfromation of the eye . In parallel, we have also contributed to identify the role of a few miRNA in eye development and to develop a model in medaka fish for “microphthalmia with skin lesions”, pinpointing to the molecular mechanism underlying this rare hereditary disease . On another side, we have collaborated with other members of the CIBERER, to elucidate the molecular basis of Lafora Disease, a rare and neurodegenerative disease .
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