Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics(clinical),Clinical Neurology
Reference24 articles.
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3. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients;Joshi;J Neurol Sci,2014
4. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency
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1. Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis;World Journal of Gastroenterology;2023-03-28
2. Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate;Metabolites;2022-11-19
3. Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F;International Journal of Molecular Sciences;2021-05-02
4. Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach;Molecules;2020-04-13
5. Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature;Journal of the Intensive Care Society;2019-12-18
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