Ontology highlight
ABSTRACT:
SUBMITTER: Segal J
PROVIDER: S-EPMC7887927 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Segal Joanna J Mülleder Michael M Krüger Antje A Adler Thure T Scholze-Wittler Manuela M Becker Lore L Calzada-Wack Julia J Garrett Lillian L Hölter Sabine M SM Rathkolb Birgit B Rozman Jan J Racz Ildiko I Fischer Ralf R Busch Dirk H DH Neff Frauke F Klingenspor Martin M Klopstock Thomas T Grüning Nana-Maria NM Michel Steve S Lukaszewska-McGreal Beata B Voigt Ingo I Hartmann Ludger L Timmermann Bernd B Lehrach Hans H Wolf Eckhard E Wurst Wolfgang W Gailus-Durner Valérie V Fuchs Helmut H H de Angelis Martin M Schrewe Heinrich H Yuneva Mariia M Ralser Markus M
Journal of inherited metabolic disease 20190611 5
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 by insufficient enzyme activity, whereas other observations indicate it could be a protein misfolding disease with tissue-specific differences in TPI activity. We generated a mouse model in which exch ...[more]