Mutation in the NDUFS4 gene of complex I abolishes cAMP‐dependent activation of the complex in a child with fatal neurological syndrome
Copyright policy )Mutation in the NDUFS4 gene of complex I abolishes cAMP‐dependent activation of the complex in a child with fatal neurological syndrome
Evidence is presented showing that in a patient with fatal neurological syndrome, the homozygous 5 bp duplication in the cDNA of the NDUFS4 18 kDa subunit of complex I abolishes cAMP‐dependent phosphorylation of this protein and activation of the complex. These findings show for the first time that human complex I is regulated via phosphorylation of the subunit encoded by the NDUFS4 gene.
- University of Bari Aldo Moro Italy
- Radboud University Nijmegen Netherlands
- Radboud University Nijmegen Medical Centre Netherlands
Male, NDUFS4 gene, Molecular Sequence Data, Inborn errors of metabolism, Human fibroblast, cAMP-dependent phosphoprotein, Disturbances in biochemical and functional development of the kidney during childhood., Fatal Outcome, Complex I, Cyclic AMP, Humans, NADH, NADPH Oxidoreductases, Amino Acid Sequence, Phosphorylation, Erfelijke stofwisselingsziekten, Cells, Cultured, Electron Transport Complex I, Sequence Homology, Amino Acid, Infant, Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijd, Fibroblasts, Enzyme Activation, Protein Subunits, Mutation, Leigh Disease
Male, NDUFS4 gene, Molecular Sequence Data, Inborn errors of metabolism, Human fibroblast, cAMP-dependent phosphoprotein, Disturbances in biochemical and functional development of the kidney during childhood., Fatal Outcome, Complex I, Cyclic AMP, Humans, NADH, NADPH Oxidoreductases, Amino Acid Sequence, Phosphorylation, Erfelijke stofwisselingsziekten, Cells, Cultured, Electron Transport Complex I, Sequence Homology, Amino Acid, Infant, Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijd, Fibroblasts, Enzyme Activation, Protein Subunits, Mutation, Leigh Disease
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