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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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Detalles Bibliográficos
Autores principales: Joshi, Pushpa Raj, Gräfin zu Stolberg-Stolberg, Maria, Scholle, Leila Motlagh, Meinhardt, Beate, Pegoraro, Elena, Zierz, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9699036/
https://www.ncbi.nlm.nih.gov/pubmed/36422281
http://dx.doi.org/10.3390/metabo12111141