Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate

Previous fibroblast and recombinant enzyme studies showed a markedly thermolabile p.Ser113Leu variant compared to the wild-type (WT) in muscle carnitine palmitoyltransferase II (CPT II) deficiency. Additionally, it has been shown that cardiolipin (CLP) stimulated or inhibited the p.Ser113Leu recombi...

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Bibliographic Details
Main Authors: Pushpa Raj Joshi, Maria Gräfin zu Stolberg-Stolberg, Leila Motlagh Scholle, Beate Meinhardt, Elena Pegoraro, Stephan Zierz
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Metabolites
Subjects:
Online Access:https://www.mdpi.com/2218-1989/12/11/1141