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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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Detalles Bibliográficos
Autor principal: Cronan, John E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253636/
https://www.ncbi.nlm.nih.gov/pubmed/32508887
http://dx.doi.org/10.3389/fgene.2020.00510