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- W2473768300 abstract "L in cystinuria and LPI. This has allowed us to propose a mechanism of reabsorption in which these amino acid exchangers participate. This model requires basolateral transporters with a net flux of neutral amino acids. The search for these transporters is done mainly with functional studies of orphan transporters within the described amino acid transporter families. Characterisation of mutated mouse models of LAT2 and EEG1 might shed light on this issue. Moreover, in collaboration with Paolo Gasparini, we are studying whether there is an association between amino acid transporter polymorphisms and renal reabsorption of amino ac- ids in genetically isolated human populations. In this regard, we have identified groups of amino acids with co-variation in uri - nary excretion. This activity was initiated within the European Union project EUGINDAT (European Union Genomic Initiative on Disorders of Amino Acid Transporters). ur research efforts focus on the molecular bases of renal reabsorption of amino acids, the physiopathology of the inherited aminoacidurias cystinuria and lysinuric protein intolerance (LPI), the structure-function relationship in heteromeric amino acid transporters (HATs), and the study of the multiple functions of heavy chains of HATs. With regards to the molecular bases of renal reabsorption of amino acids, we address the generation and characterisation of mutated mouse models of renal amino acid transporters. In the physiopathology of inherited aminoacidurias, our goals are the following: (i) to develop animal models to study the impact of several renal amino acid transporters on cystinuria, (ii) to identify mechanisms of pathology in this inherited disorder, (iii) to search for new drugs for the treatment of lithiasis in cystinuria, and (iv) to generate and characterise a mouse model for LPI. Finally, our group works towards developing the three-dimensional (3D) structure of HATs, using both human transporters and prokaryotic homologues." @default.
- W2473768300 created "2016-07-22" @default.
- W2473768300 creator A5032060997 @default.
- W2473768300 date "2008-01-01" @default.
- W2473768300 modified "2023-09-23" @default.
- W2473768300 title "Amino acid transporters: biochemistry, physiopathology, genetics and structural biology" @default.
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