Article
Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F.
International journal of molecular sciences - 2 May 2021
Meinhardt Beate, Motlagh Scholle Leila, Seifert Franziska, Anwand Martina, Pietzsch Markus, Zierz Stephan
Abstract excerpt
Muscle carnitine palmitoyltransferase II (CPT II) deficiency is associated with various mutations in CPT2 gene. In the present study, the impact of the two CPT II variants P50H and Y479F were characterized in terms of stability and activity in vitro in comparison to wildtype (WT) and the well investigated variant S113L. While the initial enzyme activity of all variants showed wild-type-like behavior, the activity...
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