Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Autor: Pérez-Torras, Sandra, Mata-Ventosa, Aida, Drögemöller, Britt, Tarailo-Graovac, Maja, Meijer, Judith, Meinsma, Rutger, van Cruchten, Arno G., Kulik, Wim, Viel-Oliva, Albert, Bidon-Chanal, Axel, Ross, Colin J., Wassermann, Wyeth W., van Karnebeek, Clara D.M., Pastor-Anglada, Marçal, van Kuilenburg, André B.P.

Publikováno v: In BBA - Molecular Basis of Disease 1 June 2019 1865(6):1182-1191

Identification and Characterization of a Secondary Sodium-Binding Site and the Main Selectivity Determinants in the Human Concentrative Nucleoside Transporter 3

Autor: C. Estarellas, Marçal Pastor-Anglada, Cristina Arimany-Nardi, Xavier Barril, Axel Bidon-Chanal, A. Viel-Oliva, A. Claudio-Montero, Peter Schmidtke

Publikováno v: MOLECULAR PHARMACEUTICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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The family of concentrative Na + /nucleoside cotransporters in humans is constituted by three subtypes, namely, hCNT1, hCNT2, and hCNT3. Besides their different nucleoside selectivity, hCNT1 and hCNT2 have a Na + /nucleoside stoichiometry of 1:1, whi

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http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11574