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leaD reSearcHer
Nunes, Virginia
Fundación IDIBELL
Hospital Durán y Reynals Gran Vía de l’Hospitalet, 199 08908 Hospitalet de Llobregat
(+34) 93 260 74 06 [email protected] group website
GROUP MEMBERS
Staff members: González Simarro, Laura | López De Heredia Alonso, Miguel Associated members: Prat Pedrola, Esther
Main lines of research
• Molecular bases of the amino acid renal reabsorption.
• Involvement of heteromeric amino acid transporters (HAT) in inherited human diseases.
• Cystinuria: Search for cystine lithiasis modulation genes and possible therapies.
• Characterization of SLC7A8 as gene for ARHL and cataracts from the ear and ocular phenotype in the
knockout mouse for LAT-2 transporter.
• Generation and characterization of the double LAT-2/TAT1 knockout mouse.
• Molecular bases of the Megalencephalic Leukoencephalopathy with subcortical quists (MLC1).
• Identification of MLC1 interactome.
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PROGRAMMES
Inherited Metabolic Medicine