Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency

Triosephosphate isomerase (TPI) deficiency is a fatal genetic disorder characterized by hemolytic anemia and neurological dysfunction. Although the enzyme defect in TPI was discovered in the 1960s, the exact etiology of the disease is still debated. Some aspects indicate the disease could be caused...

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Detalles Bibliográficos
Autores principales: Segal, Joanna, Mülleder, Michael, Krüger, Antje, Adler, Thure, Scholze‐Wittler, Manuela, Becker, Lore, Calzada‐Wack, Julia, Garrett, Lillian, Hölter, Sabine M., Rathkolb, Birgit, Rozman, Jan, Racz, Ildiko, Fischer, Ralf, Busch, Dirk H., Neff, Frauke, Klingenspor, Martin, Klopstock, Thomas, Grüning, Nana‐Maria, Michel, Steve, Lukaszewska‐McGreal, Beata, Voigt, Ingo, Hartmann, Ludger, Timmermann, Bernd, Lehrach, Hans, Wolf, Eckhard, Wurst, Wolfgang, Gailus‐Durner, Valérie, Fuchs, Helmut, H. de Angelis, Martin, Schrewe, Heinrich, Yuneva, Mariia, Ralser, Markus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7887927/
https://www.ncbi.nlm.nih.gov/pubmed/31111503
http://dx.doi.org/10.1002/jimd.12105

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