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Contributions of aquaporins and transduction proteins in the treatment of achondroplasia

15th National Programme for the allocation of Research Grants for Life and Matter Sciences

Rare diseases

Senior Researcher : Jesús Pintor Just

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Research Centre or Institution : Escuela Universitaria de Óptica. Universidad Complutense. Madrid


The project concerns the role of aquaporins and water movement in achondroplastic cells (chondrocytes). The objectives described in the original report are: 1. Study of the presence and distribution of aquaporins in normal and achondroplastic chondrocytes, studying their distribution as the chondrocyte matures. 2. Silencing of aquaporins to understand their physiological relevance in the normal and achondroplastic chondrocyte. 3. The effect that the normal and achondroplastic FGFR3 receptor has on traffic of aquaporins to the plasma membrane and on the expression of these proteins. 4. Effects of Ap4A and PPADS on aquaporins. 5. Use of the Tat transcription protein to block characteristic overactivation of FGFR3 receptors in achondroplasia and its effect on aquaporins.

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