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Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II

OBJECTIVE: Muscle carnitine palmitoyltransferase (CPT) II deficiency, the most common defect of lipid metabolism in muscle, is characterized by attacks of myoglobinuria without persistent muscle weakness. METHODS: His(6)-N-hCPT2 (wild-type) and His(6)-N-hCPT2/S113L (variant) were produced recombinan...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Motlagh, Leila, Golbik, Ralph, Sippl, Wolfgang, Zierz, Stephan
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4830186/
https://ncbi.nlm.nih.gov/pubmed/27123472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000053
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