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Progress in the Enzymology of the Mitochondrial Diseases of Lipoic Acid Requiring Enzymes

Three human mitochondrial diseases that directly affect lipoic acid metabolism result from heterozygous missense and nonsense mutations in the LIAS, LIPT1, and LIPT2 genes. However, the functions of the proteins encoded by these genes in lipoic acid metabolism remained uncertain due to a lack of bio...

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Autor principal: John E. Cronan
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020-05-01
Col·lecció:Frontiers in Genetics
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Accés en línia:https://www.frontiersin.org/article/10.3389/fgene.2020.00510/full
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