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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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Bibliografiske detaljer
Udgivet i:Front Genet
Hovedforfatter: Cronan, John E.
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7253636/
https://ncbi.nlm.nih.gov/pubmed/32508887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00510
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