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Most relevant scientific articles
• Nagamori S., Wiriyasermkul P., Guarch M.E., Okuyama H., Nakagomi S., Tadagaki K. et al. Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1. Proceedings of the National Academy of Sciences of the United States of America. 2016;113(3):775-780.
Hightlights
In 2016 we have continued investigating the renal reabsorption of amino acids using KO mouse models
for different heteromeric aminoacids transporters (HAT). In collaboration with Manuel Palacin (U731) we have described a new cystine transporter in kidney, AGT1, responsible of the 10-15% of its reabsorption (Nagamori et to the., 2016). As possible new gene involved in Cystinuria, we have collected and analyzed families of Cystinuria, to correlate mutations in AGT1 with levels of aminoacids excretion in urine. We described and analyzed SLC7A8 mutations in patients with deafness, from identifying the ARHL Phenotype in mouse SLc7a8-/-collaborating with Manuel Palacin (U731) and Isabel Varela Nieto (U761) (Espino et al., submitted). At the same time we have described SLC7A8 as gene causing cataracts, again starting from the phenotype detected in the Slc7a8-/-KO, phenotype favored in the model double KO SlLc7a8-/-/ Slc16a10-/- in collaboration with Manuel Palacin (U731) and François Verrey in Switzerland (Vilches and cols., pending of submission).
Within the FIS project aimed at the study of a compound as a treatment for Cystinuria, we set up the determination of L-Erg in mouse urine, we carry out a treatment of Slc7a9-/- litiasic mice with L-Erg for three months (data under analysis) and prepared the treatment for 6 months from weaning. We Performed a proteomic study from renal brush borders samples to identify possible modulators of cystine lithiasis, currently in analysis.
Within the intramural project, (ref. E17P2AC730) in collaboration with units (U731, U737), we have carried out a Transcriptomic study by using different HATs mouse models (Slc7a9-/-, Slc3 a1-/-, Slc7a7-/-, Slc7a8-/- and the double, Slc7a8-/-/Slc16a10-/-). Data currently under analysis.
Collaborating with Raul Estevez (U751) we carried out a pilot trial to test the therapeutic possibilities of a compound for MLC, in our Mlc-/- mice (collaboration with MedDay). We have generated the colony for the second MLC gene the GLialCAm-/.
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