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• W2190635170 abstract "Mutations in NFU1 were recently identified in patients with fatal encephalopathy. NFU1 is an iron-sulfur cluster protein necessary for the activity of the mitochondrial respiratory chain complexes I-II and the synthesis of lipoic acid. We report two NFU1 compound heterozygous individuals with normal complex I and lipoic acid-dependent enzymatic activities and low, but detectable, levels of lipoylated proteins. We demonstrated a leaky splicing regulation due to a splice site mutation (c.545+5G>A) that produces small amounts of wild type NFU1 mRNA that might result in enough protein to partially lipoylate and restore the activity of lipoic acid-dependent enzymes and the assembly and activity of complex I. These results allowed us to gain insights into the molecular basis underlying this disease and should be considered for the diagnosis of NFU1 patients." @default.
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• W2190635170 date "2016-01-01" @default.
• W2190635170 modified "2023-10-18" @default.
• W2190635170 title "A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis" @default.
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• W2190635170 doi "https://doi.org/10.1016/j.mito.2015.12.004" @default.
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